Canonical Allele Identifier: CA379788035

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1723123
• ClinVar RCV Id: RCV002306230
• gnomAD v4: 11-17395882-C-G
• MyVariant Identifiers: chr11:g.17417429C>G (hg19) ; chr11:g.17395882C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395882C>G , CM000673.2:g.17395882C>G	GRCh38
NC_000011.9:g.17417429C>G , CM000673.1:g.17417429C>G	GRCh37
NC_000011.8:g.17374005C>G	NCBI36
NG_008867.1:g.86021G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3769G>C
ENST00000528374.2:c.759G>C
ENST00000529967.6:n.2507G>C
ENST00000532220.2:n.3401G>C
ENST00000642611.2:n.5368G>C
ENST00000644057.2:n.611G>C
ENST00000645004.2:n.1667G>C
ENST00000682051.1:n.4330G>C
ENST00000682110.1:n.4383G>C
ENST00000682140.1:c.4034G>C	ENSP00000507829.1:p.Cys1345Ser
ENST00000682185.1:n.5473G>C
ENST00000682204.1:c.*2306G>C	ENSP00000507094.1:n.*2306G>C
ENST00000682215.1:n.4750G>C
ENST00000682288.1:c.*2599G>C	ENSP00000507506.1:n.*2599G>C
ENST00000682442.1:n.4603G>C
ENST00000682528.1:n.4460G>C
ENST00000682673.1:n.4327G>C
ENST00000682805.1:n.4788G>C
ENST00000682965.1:c.*590G>C	ENSP00000508229.1:n.*590G>C
ENST00000683093.1:n.5467G>C
ENST00000683136.1:c.4051G>C	ENSP00000507768.1:p.Ala1351Pro
ENST00000683153.1:n.4425G>C
ENST00000683365.1:n.4485G>C
ENST00000683377.1:n.4383G>C
ENST00000683456.1:c.*1305G>C	ENSP00000508318.1:n.*1305G>C
ENST00000683522.1:n.4383G>C
ENST00000683562.1:c.*2337G>C	ENSP00000508265.1:n.*2337G>C
ENST00000683693.1:n.5815G>C
ENST00000683725.1:c.4168G>C	ENSP00000507496.1:p.Ala1390Pro
ENST00000684010.1:n.4378G>C
ENST00000684157.1:n.5368G>C
ENST00000684253.1:n.4286G>C
ENST00000684288.1:c.*2340G>C	ENSP00000507143.1:n.*2340G>C
ENST00000684313.1:n.3815G>C
ENST00000684332.1:n.4456G>C
ENST00000684371.1:n.4489G>C
ENST00000684404.1:n.5411G>C
ENST00000684442.1:n.4607G>C
ENST00000684555.1:c.*2380G>C	ENSP00000507705.1:n.*2380G>C
ENST00000684571.1:c.4009G>C	ENSP00000506935.1:p.Ala1337Pro
ENST00000684593.1:c.*3873G>C	ENSP00000507005.1:n.*3873G>C
ENST00000684711.1:c.*2564G>C	ENSP00000506841.1:n.*2564G>C
ENST00000302539.9:c.4171G>C	ENSP00000303960.4:p.Ala1391Pro
ENST00000389817.8:c.4168G>C MANE Select	ENSP00000374467.4:p.Ala1390Pro
ENST00000642271.1:c.4165G>C	ENSP00000493749.1:p.Ala1389Pro
ENST00000642579.1:c.2222G>C
ENST00000642611.1:n.5253G>C
ENST00000642902.1:c.3950G>C
ENST00000643260.1:c.4168G>C	ENSP00000494450.1:p.Ala1390Pro
ENST00000643562.1:c.*2290G>C	ENSP00000496124.1:n.*2290G>C
ENST00000643925.1:c.2808G>C
ENST00000644057.1:n.245G>C
ENST00000644484.1:c.*3554G>C	ENSP00000493558.1:n.*3554G>C
ENST00000644675.1:c.*2340G>C	ENSP00000494567.1:n.*2340G>C
ENST00000644757.1:c.*3202+382G>C	ENSP00000495085.1:n.*3202+382G>C
ENST00000644772.1:c.4234G>C	ENSP00000494321.1:p.Ala1412Pro
ENST00000645004.1:n.1861G>C
ENST00000645076.1:c.3367G>C
ENST00000645417.1:c.1356G>C
ENST00000645744.1:c.*3933G>C	ENSP00000494564.1:n.*3933G>C
ENST00000645760.1:c.4589G>C
ENST00000645884.1:c.*1451G>C	ENSP00000495516.1:n.*1451G>C
ENST00000646003.1:c.*2270G>C	ENSP00000495259.1:n.*2270G>C
ENST00000646207.1:c.*3005G>C	ENSP00000495025.1:n.*3005G>C
ENST00000646276.1:c.*3572G>C	ENSP00000496070.1:n.*3572G>C
ENST00000646592.1:c.3474G>C
ENST00000646902.1:c.4135G>C	ENSP00000494101.1:p.Ala1379Pro
ENST00000646993.1:c.*2710G>C	ENSP00000493720.1:n.*2710G>C
ENST00000647013.1:c.4174G>C	ENSP00000496741.1:n.4174G>C
ENST00000647015.1:c.3919G>C	ENSP00000495389.1:p.Ala1307Pro
ENST00000647086.1:c.*3754G>C	ENSP00000493677.1:n.*3754G>C
ENST00000647158.1:c.*2455G>C	ENSP00000495744.1:n.*2455G>C
ENST00000302539.8:c.4171G>C	ENSP00000303960.4:p.Ala1391Pro
ENST00000389817.7:c.4168G>C	ENSP00000374467.3:p.Ala1390Pro
ENST00000525022.1:n.34G>C
ENST00000526168.5:c.36G>C
ENST00000531642.5:c.4G>C
NM_000352.4:c.4168G>C	NP_000343.2:p.Ala1390Pro
NM_001287174.1:c.4171G>C	NP_001274103.1:p.Ala1391Pro
XM_011520331.1:c.4168G>C	XP_011518633.1:p.Ala1390Pro
XM_011520332.1:c.4171G>C	XP_011518634.1:p.Ala1391Pro
XM_011520333.1:c.2668G>C	XP_011518635.1:p.Ala890Pro
XR_930890.1:n.4234G>C
NM_001351295.1:c.4234G>C	NP_001338224.1:p.Ala1412Pro
NM_001351296.1:c.4168G>C	NP_001338225.1:p.Ala1390Pro
NM_001351297.1:c.4165G>C	NP_001338226.1:p.Ala1389Pro
NR_147094.1:n.4463G>C
XM_017018197.2:c.4237G>C	XP_016873686.1:p.Ala1413Pro
XM_017018199.1:c.4234G>C	XP_016873688.1:p.Ala1412Pro
XM_017018201.2:c.4237G>C	XP_016873690.1:p.Ala1413Pro
XM_017018202.1:c.2734G>C	XP_016873691.1:p.Ala912Pro
XM_017018204.1:c.2125G>C	XP_016873693.1:p.Ala709Pro
XM_024448668.1:c.2536G>C	XP_024304436.1:p.Ala846Pro
XR_001747945.2:n.4309G>C
XR_001747946.2:n.4240G>C
XR_002957189.1:n.5890G>C
NM_000352.6:c.4168G>C MANE Select	NP_000343.2:p.Ala1390Pro
NM_001287174.2:c.4171G>C	NP_001274103.1:p.Ala1391Pro
NM_001351295.2:c.4234G>C	NP_001338224.1:p.Ala1412Pro
NM_001351296.2:c.4168G>C	NP_001338225.1:p.Ala1390Pro
NM_001351297.2:c.4165G>C	NP_001338226.1:p.Ala1389Pro
NR_147094.2:n.4463G>C
NM_001287174.3:c.4171G>C	NP_001274103.1:p.Ala1391Pro