Canonical Allele Identifier: CA379797675

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426094G>C (hg19) ; chr11:g.17404547G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404547G>C , CM000673.2:g.17404547G>C	GRCh38
NC_000011.9:g.17426094G>C , CM000673.1:g.17426094G>C	GRCh37
NC_000011.8:g.17382670G>C	NCBI36
NG_008867.1:g.77356C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3091C>G
ENST00000528374.2:c.101C>G
ENST00000529967.6:n.1861C>G
ENST00000532220.2:n.1254C>G
ENST00000642611.2:n.3591C>G
ENST00000645004.2:n.1021C>G
ENST00000682051.1:n.3538C>G
ENST00000682110.1:n.3591C>G
ENST00000682140.1:c.3519C>G	ENSP00000507829.1:p.Cys1173Trp
ENST00000682185.1:n.4827C>G
ENST00000682204.1:c.*1660C>G	ENSP00000507094.1:n.*1660C>G
ENST00000682215.1:n.3588C>G
ENST00000682288.1:c.*1953C>G	ENSP00000507506.1:n.*1953C>G
ENST00000682442.1:n.3811C>G
ENST00000682528.1:n.3668C>G
ENST00000682673.1:n.3535C>G
ENST00000682805.1:n.3588C>G
ENST00000682965.1:c.3396+947C>G	ENSP00000508229.1:n.3396+947C>G
ENST00000683093.1:n.3690C>G
ENST00000683136.1:c.3519C>G	ENSP00000507768.1:p.Cys1173Trp
ENST00000683153.1:n.3747C>G
ENST00000683365.1:n.3693C>G
ENST00000683377.1:n.3591C>G
ENST00000683456.1:c.*659C>G	ENSP00000508318.1:n.*659C>G
ENST00000683522.1:n.3591C>G
ENST00000683562.1:c.*1691C>G	ENSP00000508265.1:n.*1691C>G
ENST00000683693.1:n.3668C>G
ENST00000683725.1:c.3522C>G	ENSP00000507496.1:p.Cys1174Trp
ENST00000684010.1:n.3586C>G
ENST00000684157.1:n.3591C>G
ENST00000684253.1:n.3494C>G
ENST00000684288.1:c.*1694C>G	ENSP00000507143.1:n.*1694C>G
ENST00000684313.1:n.3023C>G
ENST00000684332.1:n.3664C>G
ENST00000684371.1:n.3697C>G
ENST00000684404.1:n.3634C>G
ENST00000684442.1:n.3591C>G
ENST00000684555.1:c.*1734C>G	ENSP00000507705.1:n.*1734C>G
ENST00000684571.1:c.3363C>G	ENSP00000506935.1:p.Cys1121Trp
ENST00000684593.1:c.*3227C>G	ENSP00000507005.1:n.*3227C>G
ENST00000684711.1:c.*1918C>G	ENSP00000506841.1:n.*1918C>G
ENST00000302539.9:c.3525C>G	ENSP00000303960.4:p.Cys1175Trp
ENST00000389817.8:c.3522C>G MANE Select	ENSP00000374467.4:p.Cys1174Trp
ENST00000642271.1:c.3519C>G	ENSP00000493749.1:p.Cys1173Trp
ENST00000642579.1:c.1606C>G
ENST00000642611.1:n.3476C>G
ENST00000642902.1:c.3304C>G
ENST00000643260.1:c.3522C>G	ENSP00000494450.1:p.Cys1174Trp
ENST00000643562.1:c.*1498C>G	ENSP00000496124.1:n.*1498C>G
ENST00000643925.1:c.1646C>G
ENST00000644447.1:c.1878C>G	ENSP00000496282.1:p.Cys626Trp
ENST00000644484.1:c.*1777C>G	ENSP00000493558.1:n.*1777C>G
ENST00000644675.1:c.*1694C>G	ENSP00000494567.1:n.*1694C>G
ENST00000644757.1:c.*1807C>G	ENSP00000495085.1:n.*1807C>G
ENST00000644772.1:c.3588C>G	ENSP00000494321.1:p.Cys1196Trp
ENST00000645004.1:n.661C>G
ENST00000645076.1:c.2721C>G
ENST00000645417.1:c.688C>G
ENST00000645744.1:c.*1786C>G	ENSP00000494564.1:n.*1786C>G
ENST00000645760.1:c.3797C>G
ENST00000645884.1:c.*659C>G	ENSP00000495516.1:n.*659C>G
ENST00000646003.1:c.*1478C>G	ENSP00000495259.1:n.*1478C>G
ENST00000646207.1:c.*1989C>G	ENSP00000495025.1:n.*1989C>G
ENST00000646276.1:c.*1795C>G	ENSP00000496070.1:n.*1795C>G
ENST00000646592.1:c.2828C>G
ENST00000646902.1:c.3519C>G	ENSP00000494101.1:p.Cys1173Trp
ENST00000646993.1:c.*1918C>G	ENSP00000493720.1:n.*1918C>G
ENST00000647013.1:c.3528C>G	ENSP00000496741.1:n.3528C>G
ENST00000647015.1:c.3273C>G	ENSP00000495389.1:p.Cys1091Trp
ENST00000647086.1:c.*3252C>G	ENSP00000493677.1:n.*3252C>G
ENST00000647158.1:c.*1663C>G	ENSP00000495744.1:n.*1663C>G
ENST00000302539.8:c.3525C>G	ENSP00000303960.4:p.Cys1175Trp
ENST00000389817.7:c.3522C>G	ENSP00000374467.3:p.Cys1174Trp
ENST00000524561.1:n.654C>G
ENST00000527905.5:c.*398C>G	ENSP00000431653.1:n.*398C>G
ENST00000531137.1:n.15C>G
NM_000352.4:c.3522C>G	NP_000343.2:p.Cys1174Trp
NM_001287174.1:c.3525C>G	NP_001274103.1:p.Cys1175Trp
XM_011520331.1:c.3522C>G	XP_011518633.1:p.Cys1174Trp
XM_011520332.1:c.3525C>G	XP_011518634.1:p.Cys1175Trp
XM_011520333.1:c.2022C>G	XP_011518635.1:p.Cys674Trp
XR_930890.1:n.3588C>G
XR_930892.1:n.3488C>G
XR_930893.1:n.3485C>G
NM_001351295.1:c.3588C>G	NP_001338224.1:p.Cys1196Trp
NM_001351296.1:c.3522C>G	NP_001338225.1:p.Cys1174Trp
NM_001351297.1:c.3519C>G	NP_001338226.1:p.Cys1173Trp
NR_147094.1:n.3671C>G
XM_017018197.2:c.3591C>G	XP_016873686.1:p.Cys1197Trp
XM_017018199.1:c.3588C>G	XP_016873688.1:p.Cys1196Trp
XM_017018201.2:c.3591C>G	XP_016873690.1:p.Cys1197Trp
XM_017018202.1:c.2088C>G	XP_016873691.1:p.Cys696Trp
XM_017018204.1:c.1479C>G	XP_016873693.1:p.Cys493Trp
XM_024448668.1:c.1890C>G	XP_024304436.1:p.Cys630Trp
XR_001747945.2:n.3663C>G
XR_001747946.2:n.3594C>G
XR_002957189.1:n.3743C>G
NM_000352.6:c.3522C>G MANE Select	NP_000343.2:p.Cys1174Trp
NM_001287174.2:c.3525C>G	NP_001274103.1:p.Cys1175Trp
NM_001351295.2:c.3588C>G	NP_001338224.1:p.Cys1196Trp
NM_001351296.2:c.3522C>G	NP_001338225.1:p.Cys1174Trp
NM_001351297.2:c.3519C>G	NP_001338226.1:p.Cys1173Trp
NR_147094.2:n.3671C>G
NM_001287174.3:c.3525C>G	NP_001274103.1:p.Cys1175Trp