Canonical Allele Identifier: CA597664885

Gene: ABCC8

Linked Data

• dbSNP Id: rs1387939352
• gnomAD v2: 11-17417968-G-C
• gnomAD v3: 11-17396421-G-C
• gnomAD v4: 11-17396421-G-C
• MyVariant Identifiers: chr11:g.17417968G>C (hg19) ; chr11:g.17396421G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396421G>C , CM000673.2:g.17396421G>C	GRCh38
NC_000011.9:g.17417968G>C , CM000673.1:g.17417968G>C	GRCh37
NC_000011.8:g.17374544G>C	NCBI36
NG_008867.1:g.85482C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3721-491C>G
ENST00000528374.2:c.711-491C>G
ENST00000529967.6:n.2459-491C>G
ENST00000532220.2:n.2862C>G
ENST00000642611.2:n.4829C>G
ENST00000644057.2:n.563-491C>G
ENST00000645004.2:n.1619-491C>G
ENST00000682051.1:n.4282-491C>G
ENST00000682110.1:n.4335-491C>G
ENST00000682140.1:c.3986-491C>G	ENSP00000507829.1:n.3986-491C>G
ENST00000682185.1:n.5425-491C>G
ENST00000682204.1:c.*2258-491C>G	ENSP00000507094.1:n.*2258-491C>G
ENST00000682215.1:n.4702-491C>G
ENST00000682288.1:c.*2551-491C>G	ENSP00000507506.1:n.*2551-491C>G
ENST00000682442.1:n.4555-491C>G
ENST00000682528.1:n.4412-491C>G
ENST00000682673.1:n.4279-491C>G
ENST00000682805.1:n.4739+457C>G
ENST00000682965.1:c.*542-491C>G	ENSP00000508229.1:n.*542-491C>G
ENST00000683093.1:n.4928C>G
ENST00000683136.1:c.4003-491C>G	ENSP00000507768.1:n.4003-491C>G
ENST00000683153.1:n.4377-491C>G
ENST00000683365.1:n.4437-491C>G
ENST00000683377.1:n.4335-491C>G
ENST00000683456.1:c.*1257-491C>G	ENSP00000508318.1:n.*1257-491C>G
ENST00000683522.1:n.4335-491C>G
ENST00000683562.1:c.*2289-491C>G	ENSP00000508265.1:n.*2289-491C>G
ENST00000683693.1:n.5276C>G
ENST00000683725.1:c.4120-491C>G	ENSP00000507496.1:n.4120-491C>G
ENST00000684010.1:n.4330-491C>G
ENST00000684157.1:n.4829C>G
ENST00000684253.1:n.4238-491C>G
ENST00000684288.1:c.*2292-491C>G	ENSP00000507143.1:n.*2292-491C>G
ENST00000684313.1:n.3767-491C>G
ENST00000684332.1:n.4408-491C>G
ENST00000684371.1:n.4441-491C>G
ENST00000684404.1:n.4872C>G
ENST00000684442.1:n.4559-491C>G
ENST00000684555.1:c.*2332-491C>G	ENSP00000507705.1:n.*2332-491C>G
ENST00000684571.1:c.3961-491C>G	ENSP00000506935.1:n.3961-491C>G
ENST00000684593.1:c.*3825-491C>G	ENSP00000507005.1:n.*3825-491C>G
ENST00000684711.1:c.*2516-491C>G	ENSP00000506841.1:n.*2516-491C>G
ENST00000302539.9:c.4123-491C>G	ENSP00000303960.4:n.4123-491C>G
ENST00000389817.8:c.4120-491C>G MANE Select	ENSP00000374467.4:n.4120-491C>G
ENST00000642271.1:c.4117-491C>G	ENSP00000493749.1:n.4117-491C>G
ENST00000642579.1:c.2174-491C>G
ENST00000642611.1:n.4714C>G
ENST00000642902.1:c.3902-491C>G
ENST00000643260.1:c.4120-491C>G	ENSP00000494450.1:n.4120-491C>G
ENST00000643562.1:c.*2242-491C>G	ENSP00000496124.1:n.*2242-491C>G
ENST00000643925.1:c.2760-491C>G
ENST00000644057.1:n.197-491C>G
ENST00000644484.1:c.*3015C>G	ENSP00000493558.1:n.*3015C>G
ENST00000644675.1:c.*2292-491C>G	ENSP00000494567.1:n.*2292-491C>G
ENST00000644757.1:c.*3045C>G	ENSP00000495085.1:n.*3045C>G
ENST00000644772.1:c.4186-491C>G	ENSP00000494321.1:n.4186-491C>G
ENST00000645004.1:n.1812+457C>G
ENST00000645076.1:c.3319-491C>G
ENST00000645417.1:c.1308-491C>G
ENST00000645744.1:c.*3394C>G	ENSP00000494564.1:n.*3394C>G
ENST00000645760.1:c.4541-491C>G
ENST00000645884.1:c.*1403-491C>G	ENSP00000495516.1:n.*1403-491C>G
ENST00000646003.1:c.*2222-491C>G	ENSP00000495259.1:n.*2222-491C>G
ENST00000646207.1:c.*2957-491C>G	ENSP00000495025.1:n.*2957-491C>G
ENST00000646276.1:c.*3033C>G	ENSP00000496070.1:n.*3033C>G
ENST00000646592.1:c.3426-491C>G
ENST00000646902.1:c.4087-491C>G	ENSP00000494101.1:n.4087-491C>G
ENST00000646993.1:c.*2662-491C>G	ENSP00000493720.1:n.*2662-491C>G
ENST00000647013.1:c.4126-491C>G	ENSP00000496741.1:n.4126-491C>G
ENST00000647015.1:c.3871-491C>G	ENSP00000495389.1:n.3871-491C>G
ENST00000647086.1:c.*3706-491C>G	ENSP00000493677.1:n.*3706-491C>G
ENST00000647158.1:c.*2407-491C>G	ENSP00000495744.1:n.*2407-491C>G
ENST00000302539.8:c.4123-491C>G	ENSP00000303960.4:n.4123-491C>G
ENST00000389817.7:c.4120-491C>G	ENSP00000374467.3:n.4120-491C>G
ENST00000528374.1:c.602-491C>G
ENST00000532220.1:n.594-491C>G
NM_000352.4:c.4120-491C>G	NP_000343.2:n.4120-491C>G
NM_001287174.1:c.4123-491C>G	NP_001274103.1:n.4123-491C>G
XM_011520331.1:c.4120-491C>G	XP_011518633.1:n.4120-491C>G
XM_011520332.1:c.4123-491C>G	XP_011518634.1:n.4123-491C>G
XM_011520333.1:c.2620-491C>G	XP_011518635.1:n.2620-491C>G
XR_930890.1:n.4186-491C>G
NM_001351295.1:c.4186-491C>G	NP_001338224.1:n.4186-491C>G
NM_001351296.1:c.4120-491C>G	NP_001338225.1:n.4120-491C>G
NM_001351297.1:c.4117-491C>G	NP_001338226.1:n.4117-491C>G
NR_147094.1:n.4415-491C>G
XM_017018197.2:c.4189-491C>G	XP_016873686.1:n.4189-491C>G
XM_017018199.1:c.4186-491C>G	XP_016873688.1:n.4186-491C>G
XM_017018201.2:c.4189-491C>G	XP_016873690.1:n.4189-491C>G
XM_017018202.1:c.2686-491C>G	XP_016873691.1:n.2686-491C>G
XM_017018204.1:c.2077-491C>G	XP_016873693.1:n.2077-491C>G
XM_024448668.1:c.2488-491C>G	XP_024304436.1:n.2488-491C>G
XR_001747945.2:n.4261-491C>G
XR_001747946.2:n.4192-491C>G
XR_002957189.1:n.5351C>G
NM_000352.6:c.4120-491C>G MANE Select	NP_000343.2:n.4120-491C>G
NM_001287174.2:c.4123-491C>G	NP_001274103.1:n.4123-491C>G
NM_001351295.2:c.4186-491C>G	NP_001338224.1:n.4186-491C>G
NM_001351296.2:c.4120-491C>G	NP_001338225.1:n.4120-491C>G
NM_001351297.2:c.4117-491C>G	NP_001338226.1:n.4117-491C>G
NR_147094.2:n.4415-491C>G
NM_001287174.3:c.4123-491C>G	NP_001274103.1:n.4123-491C>G