Canonical Allele Identifier: CA473298110

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17394371-A-G
• MyVariant Identifiers: chr11:g.17415918A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394371A>G , CM000673.2:g.17394371A>G	GRCh38
NC_000011.9:g.17415918A>G , CM000673.1:g.17415918A>G	GRCh37
NC_000011.8:g.17372494A>G	NCBI36
NG_008867.1:g.87532T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4041T>C
ENST00000526037.6:n.375T>C
ENST00000528374.2:c.1031T>C
ENST00000529967.6:n.2779T>C
ENST00000532220.2:n.3673T>C
ENST00000642611.2:n.5773T>C
ENST00000644057.2:n.1016T>C
ENST00000645004.2:n.1939T>C
ENST00000682051.1:n.4602T>C
ENST00000682110.1:n.4655T>C
ENST00000682140.1:c.*226T>C	ENSP00000507829.1:n.*226T>C
ENST00000682185.1:n.5745T>C
ENST00000682204.1:c.*2578T>C	ENSP00000507094.1:n.*2578T>C
ENST00000682215.1:n.5022T>C
ENST00000682288.1:c.*2871T>C	ENSP00000507506.1:n.*2871T>C
ENST00000682442.1:n.4875T>C
ENST00000682528.1:n.4732T>C
ENST00000682673.1:n.4599T>C
ENST00000682805.1:n.5060T>C
ENST00000682965.1:c.*862T>C	ENSP00000508229.1:n.*862T>C
ENST00000683093.1:n.5635T>C
ENST00000683136.1:c.4323T>C	ENSP00000507768.1:p.Asn1441=
ENST00000683153.1:n.4697T>C
ENST00000683365.1:n.4757T>C
ENST00000683377.1:n.4551T>C
ENST00000683456.1:c.*1577T>C	ENSP00000508318.1:n.*1577T>C
ENST00000683522.1:n.4737T>C
ENST00000683562.1:c.*2505T>C	ENSP00000508265.1:n.*2505T>C
ENST00000683693.1:n.6116T>C
ENST00000683725.1:c.4336T>C	ENSP00000507496.1:p.Phe1446Leu
ENST00000684010.1:n.4650T>C
ENST00000684014.1:n.627T>C
ENST00000684157.1:n.5640T>C
ENST00000684253.1:n.4558T>C
ENST00000684288.1:c.*2612T>C	ENSP00000507143.1:n.*2612T>C
ENST00000684313.1:n.4087T>C
ENST00000684332.1:n.4728T>C
ENST00000684371.1:n.4761T>C
ENST00000684404.1:n.5683T>C
ENST00000684442.1:n.4879T>C
ENST00000684555.1:c.*2652T>C	ENSP00000507705.1:n.*2652T>C
ENST00000684571.1:c.4281T>C	ENSP00000506935.1:p.Asn1427=
ENST00000684593.1:c.*4145T>C	ENSP00000507005.1:n.*4145T>C
ENST00000684711.1:c.*2836T>C	ENSP00000506841.1:n.*2836T>C
ENST00000302539.9:c.4443T>C	ENSP00000303960.4:p.Asn1481=
ENST00000389817.8:c.4440T>C MANE Select	ENSP00000374467.4:p.Asn1480=
ENST00000642271.1:c.4437T>C	ENSP00000493749.1:p.Asn1479=
ENST00000642579.1:c.2494T>C
ENST00000642611.1:n.5658T>C
ENST00000642902.1:c.4222T>C
ENST00000643260.1:c.4440T>C	ENSP00000494450.1:p.Asn1480=
ENST00000643562.1:c.*2562T>C	ENSP00000496124.1:n.*2562T>C
ENST00000643925.1:c.3080T>C
ENST00000644057.1:n.599T>C
ENST00000644484.1:c.*3826T>C	ENSP00000493558.1:n.*3826T>C
ENST00000644675.1:c.*2612T>C	ENSP00000494567.1:n.*2612T>C
ENST00000644757.1:c.*3203-1391T>C	ENSP00000495085.1:n.*3203-1391T>C
ENST00000644772.1:c.4506T>C	ENSP00000494321.1:p.Asn1502=
ENST00000645004.1:n.2133T>C
ENST00000645076.1:c.3535T>C
ENST00000645417.1:c.1628T>C
ENST00000645744.1:c.*4125T>C	ENSP00000494564.1:n.*4125T>C
ENST00000645760.1:c.4861T>C
ENST00000645884.1:c.*1723T>C	ENSP00000495516.1:n.*1723T>C
ENST00000646003.1:c.*2462T>C	ENSP00000495259.1:n.*2462T>C
ENST00000646207.1:c.*3277T>C	ENSP00000495025.1:n.*3277T>C
ENST00000646276.1:c.*3844T>C	ENSP00000496070.1:n.*3844T>C
ENST00000646592.1:c.3746T>C
ENST00000646902.1:c.4407T>C	ENSP00000494101.1:p.Asn1469=
ENST00000646993.1:c.*2878T>C	ENSP00000493720.1:n.*2878T>C
ENST00000647013.1:c.4446T>C	ENSP00000496741.1:n.4446T>C
ENST00000647015.1:c.4191T>C	ENSP00000495389.1:p.Asn1397=
ENST00000647086.1:c.*4026T>C	ENSP00000493677.1:n.*4026T>C
ENST00000647158.1:c.*2727T>C	ENSP00000495744.1:n.*2727T>C
ENST00000302539.8:c.4443T>C	ENSP00000303960.4:p.Asn1481=
ENST00000389817.7:c.4440T>C	ENSP00000374467.3:p.Asn1480=
ENST00000525022.1:n.335T>C
ENST00000526037.5:n.200T>C
ENST00000526168.5:c.228T>C
ENST00000531642.5:c.471T>C
NM_000352.4:c.4440T>C	NP_000343.2:p.Asn1480=
NM_001287174.1:c.4443T>C	NP_001274103.1:p.Asn1481=
XM_011520331.1:c.4440T>C	XP_011518633.1:p.Asn1480=
XM_011520332.1:c.4339T>C	XP_011518634.1:p.Phe1447Leu
XM_011520333.1:c.2940T>C	XP_011518635.1:p.Asn980=
XR_930890.1:n.4402T>C
NM_001351295.1:c.4506T>C	NP_001338224.1:p.Asn1502=
NM_001351296.1:c.4440T>C	NP_001338225.1:p.Asn1480=
NM_001351297.1:c.4437T>C	NP_001338226.1:p.Asn1479=
NR_147094.1:n.4735T>C
XM_017018197.2:c.4509T>C	XP_016873686.1:p.Asn1503=
XM_017018199.1:c.4506T>C	XP_016873688.1:p.Asn1502=
XM_017018201.2:c.4405T>C	XP_016873690.1:p.Phe1469Leu
XM_017018202.1:c.3006T>C	XP_016873691.1:p.Asn1002=
XM_017018204.1:c.2397T>C	XP_016873693.1:p.Asn799=
XM_024448668.1:c.2808T>C	XP_024304436.1:p.Asn936=
XR_001747945.2:n.4477T>C
XR_001747946.2:n.4408T>C
XR_002957189.1:n.6191T>C
NM_000352.6:c.4440T>C MANE Select	NP_000343.2:p.Asn1480=
NM_001287174.2:c.4443T>C	NP_001274103.1:p.Asn1481=
NM_001351295.2:c.4506T>C	NP_001338224.1:p.Asn1502=
NM_001351296.2:c.4440T>C	NP_001338225.1:p.Asn1480=
NM_001351297.2:c.4437T>C	NP_001338226.1:p.Asn1479=
NR_147094.2:n.4735T>C
NM_001287174.3:c.4443T>C	NP_001274103.1:p.Asn1481=