Canonical Allele Identifier: CA1955123424

Gene: ABCC8

Linked Data

• dbSNP Id: rs1591711243

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396003G>C , CM000673.2:g.17396003G>C	GRCh38
NC_000011.9:g.17417550G>C , CM000673.1:g.17417550G>C	GRCh37
NC_000011.8:g.17374126G>C	NCBI36
NG_008867.1:g.85900C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3721-73C>G
ENST00000528374.2:c.711-73C>G
ENST00000529967.6:n.2459-73C>G
ENST00000532220.2:n.3280C>G
ENST00000642611.2:n.5247C>G
ENST00000644057.2:n.563-73C>G
ENST00000645004.2:n.1619-73C>G
ENST00000682051.1:n.4282-73C>G
ENST00000682110.1:n.4335-73C>G
ENST00000682140.1:c.3986-73C>G	ENSP00000507829.1:n.3986-73C>G
ENST00000682185.1:n.5425-73C>G
ENST00000682204.1:c.*2258-73C>G	ENSP00000507094.1:n.*2258-73C>G
ENST00000682215.1:n.4702-73C>G
ENST00000682288.1:c.*2551-73C>G	ENSP00000507506.1:n.*2551-73C>G
ENST00000682442.1:n.4555-73C>G
ENST00000682528.1:n.4412-73C>G
ENST00000682673.1:n.4279-73C>G
ENST00000682805.1:n.4740-73C>G
ENST00000682965.1:c.*542-73C>G	ENSP00000508229.1:n.*542-73C>G
ENST00000683093.1:n.5346C>G
ENST00000683136.1:c.4003-73C>G	ENSP00000507768.1:n.4003-73C>G
ENST00000683153.1:n.4377-73C>G
ENST00000683365.1:n.4437-73C>G
ENST00000683377.1:n.4335-73C>G
ENST00000683456.1:c.*1257-73C>G	ENSP00000508318.1:n.*1257-73C>G
ENST00000683522.1:n.4335-73C>G
ENST00000683562.1:c.*2289-73C>G	ENSP00000508265.1:n.*2289-73C>G
ENST00000683693.1:n.5694C>G
ENST00000683725.1:c.4120-73C>G	ENSP00000507496.1:n.4120-73C>G
ENST00000684010.1:n.4330-73C>G
ENST00000684157.1:n.5247C>G
ENST00000684253.1:n.4238-73C>G
ENST00000684288.1:c.*2292-73C>G	ENSP00000507143.1:n.*2292-73C>G
ENST00000684313.1:n.3767-73C>G
ENST00000684332.1:n.4408-73C>G
ENST00000684371.1:n.4441-73C>G
ENST00000684404.1:n.5290C>G
ENST00000684442.1:n.4559-73C>G
ENST00000684555.1:c.*2332-73C>G	ENSP00000507705.1:n.*2332-73C>G
ENST00000684571.1:c.3961-73C>G	ENSP00000506935.1:n.3961-73C>G
ENST00000684593.1:c.*3825-73C>G	ENSP00000507005.1:n.*3825-73C>G
ENST00000684711.1:c.*2516-73C>G	ENSP00000506841.1:n.*2516-73C>G
ENST00000302539.9:c.4123-73C>G	ENSP00000303960.4:n.4123-73C>G
ENST00000389817.8:c.4120-73C>G MANE Select	ENSP00000374467.4:n.4120-73C>G
ENST00000642271.1:c.4117-73C>G	ENSP00000493749.1:n.4117-73C>G
ENST00000642579.1:c.2174-73C>G
ENST00000642611.1:n.5132C>G
ENST00000642902.1:c.3902-73C>G
ENST00000643260.1:c.4120-73C>G	ENSP00000494450.1:n.4120-73C>G
ENST00000643562.1:c.*2242-73C>G	ENSP00000496124.1:n.*2242-73C>G
ENST00000643925.1:c.2760-73C>G
ENST00000644057.1:n.197-73C>G
ENST00000644484.1:c.*3433C>G	ENSP00000493558.1:n.*3433C>G
ENST00000644675.1:c.*2292-73C>G	ENSP00000494567.1:n.*2292-73C>G
ENST00000644757.1:c.*3202+261C>G	ENSP00000495085.1:n.*3202+261C>G
ENST00000644772.1:c.4186-73C>G	ENSP00000494321.1:n.4186-73C>G
ENST00000645004.1:n.1813-73C>G
ENST00000645076.1:c.3319-73C>G
ENST00000645417.1:c.1308-73C>G
ENST00000645744.1:c.*3812C>G	ENSP00000494564.1:n.*3812C>G
ENST00000645760.1:c.4541-73C>G
ENST00000645884.1:c.*1403-73C>G	ENSP00000495516.1:n.*1403-73C>G
ENST00000646003.1:c.*2222-73C>G	ENSP00000495259.1:n.*2222-73C>G
ENST00000646207.1:c.*2957-73C>G	ENSP00000495025.1:n.*2957-73C>G
ENST00000646276.1:c.*3451C>G	ENSP00000496070.1:n.*3451C>G
ENST00000646592.1:c.3426-73C>G
ENST00000646902.1:c.4087-73C>G	ENSP00000494101.1:n.4087-73C>G
ENST00000646993.1:c.*2662-73C>G	ENSP00000493720.1:n.*2662-73C>G
ENST00000647013.1:c.4126-73C>G	ENSP00000496741.1:n.4126-73C>G
ENST00000647015.1:c.3871-73C>G	ENSP00000495389.1:n.3871-73C>G
ENST00000647086.1:c.*3706-73C>G	ENSP00000493677.1:n.*3706-73C>G
ENST00000647158.1:c.*2407-73C>G	ENSP00000495744.1:n.*2407-73C>G
ENST00000302539.8:c.4123-73C>G	ENSP00000303960.4:n.4123-73C>G
ENST00000389817.7:c.4120-73C>G	ENSP00000374467.3:n.4120-73C>G
ENST00000528374.1:c.602-73C>G
ENST00000532220.1:n.594-73C>G
NM_000352.4:c.4120-73C>G	NP_000343.2:n.4120-73C>G
NM_001287174.1:c.4123-73C>G	NP_001274103.1:n.4123-73C>G
XM_011520331.1:c.4120-73C>G	XP_011518633.1:n.4120-73C>G
XM_011520332.1:c.4123-73C>G	XP_011518634.1:n.4123-73C>G
XM_011520333.1:c.2620-73C>G	XP_011518635.1:n.2620-73C>G
XR_930890.1:n.4186-73C>G
NM_001351295.1:c.4186-73C>G	NP_001338224.1:n.4186-73C>G
NM_001351296.1:c.4120-73C>G	NP_001338225.1:n.4120-73C>G
NM_001351297.1:c.4117-73C>G	NP_001338226.1:n.4117-73C>G
NR_147094.1:n.4415-73C>G
XM_017018197.2:c.4189-73C>G	XP_016873686.1:n.4189-73C>G
XM_017018199.1:c.4186-73C>G	XP_016873688.1:n.4186-73C>G
XM_017018201.2:c.4189-73C>G	XP_016873690.1:n.4189-73C>G
XM_017018202.1:c.2686-73C>G	XP_016873691.1:n.2686-73C>G
XM_017018204.1:c.2077-73C>G	XP_016873693.1:n.2077-73C>G
XM_024448668.1:c.2488-73C>G	XP_024304436.1:n.2488-73C>G
XR_001747945.2:n.4261-73C>G
XR_001747946.2:n.4192-73C>G
XR_002957189.1:n.5769C>G
NM_000352.6:c.4120-73C>G MANE Select	NP_000343.2:n.4120-73C>G
NM_001287174.2:c.4123-73C>G	NP_001274103.1:n.4123-73C>G
NM_001351295.2:c.4186-73C>G	NP_001338224.1:n.4186-73C>G
NM_001351296.2:c.4120-73C>G	NP_001338225.1:n.4120-73C>G
NM_001351297.2:c.4117-73C>G	NP_001338226.1:n.4117-73C>G
NR_147094.2:n.4415-73C>G
NM_001287174.3:c.4123-73C>G	NP_001274103.1:n.4123-73C>G