Canonical Allele Identifier: CA473299640

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17426091G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404544G>A , CM000673.2:g.17404544G>A	GRCh38
NC_000011.9:g.17426091G>A , CM000673.1:g.17426091G>A	GRCh37
NC_000011.8:g.17382667G>A	NCBI36
NG_008867.1:g.77359C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3094C>T
ENST00000528374.2:c.104C>T
ENST00000529967.6:n.1864C>T
ENST00000532220.2:n.1257C>T
ENST00000642611.2:n.3594C>T
ENST00000645004.2:n.1024C>T
ENST00000682051.1:n.3541C>T
ENST00000682110.1:n.3594C>T
ENST00000682140.1:c.3522C>T	ENSP00000507829.1:p.Tyr1174=
ENST00000682185.1:n.4830C>T
ENST00000682204.1:c.*1663C>T	ENSP00000507094.1:n.*1663C>T
ENST00000682215.1:n.3591C>T
ENST00000682288.1:c.*1956C>T	ENSP00000507506.1:n.*1956C>T
ENST00000682442.1:n.3814C>T
ENST00000682528.1:n.3671C>T
ENST00000682673.1:n.3538C>T
ENST00000682805.1:n.3591C>T
ENST00000682965.1:c.3396+950C>T	ENSP00000508229.1:n.3396+950C>T
ENST00000683093.1:n.3693C>T
ENST00000683136.1:c.3522C>T	ENSP00000507768.1:p.Tyr1174=
ENST00000683153.1:n.3750C>T
ENST00000683365.1:n.3696C>T
ENST00000683377.1:n.3594C>T
ENST00000683456.1:c.*662C>T	ENSP00000508318.1:n.*662C>T
ENST00000683522.1:n.3594C>T
ENST00000683562.1:c.*1694C>T	ENSP00000508265.1:n.*1694C>T
ENST00000683693.1:n.3671C>T
ENST00000683725.1:c.3525C>T	ENSP00000507496.1:p.Tyr1175=
ENST00000684010.1:n.3589C>T
ENST00000684157.1:n.3594C>T
ENST00000684253.1:n.3497C>T
ENST00000684288.1:c.*1697C>T	ENSP00000507143.1:n.*1697C>T
ENST00000684313.1:n.3026C>T
ENST00000684332.1:n.3667C>T
ENST00000684371.1:n.3700C>T
ENST00000684404.1:n.3637C>T
ENST00000684442.1:n.3594C>T
ENST00000684555.1:c.*1737C>T	ENSP00000507705.1:n.*1737C>T
ENST00000684571.1:c.3366C>T	ENSP00000506935.1:p.Tyr1122=
ENST00000684593.1:c.*3230C>T	ENSP00000507005.1:n.*3230C>T
ENST00000684711.1:c.*1921C>T	ENSP00000506841.1:n.*1921C>T
ENST00000302539.9:c.3528C>T	ENSP00000303960.4:p.Tyr1176=
ENST00000389817.8:c.3525C>T MANE Select	ENSP00000374467.4:p.Tyr1175=
ENST00000642271.1:c.3522C>T	ENSP00000493749.1:p.Tyr1174=
ENST00000642579.1:c.1609C>T
ENST00000642611.1:n.3479C>T
ENST00000642902.1:c.3307C>T
ENST00000643260.1:c.3525C>T	ENSP00000494450.1:p.Tyr1175=
ENST00000643562.1:c.*1501C>T	ENSP00000496124.1:n.*1501C>T
ENST00000643925.1:c.1649C>T
ENST00000644447.1:c.1881C>T	ENSP00000496282.1:p.Tyr627=
ENST00000644484.1:c.*1780C>T	ENSP00000493558.1:n.*1780C>T
ENST00000644675.1:c.*1697C>T	ENSP00000494567.1:n.*1697C>T
ENST00000644757.1:c.*1810C>T	ENSP00000495085.1:n.*1810C>T
ENST00000644772.1:c.3591C>T	ENSP00000494321.1:p.Tyr1197=
ENST00000645004.1:n.664C>T
ENST00000645076.1:c.2724C>T
ENST00000645417.1:c.691C>T
ENST00000645744.1:c.*1789C>T	ENSP00000494564.1:n.*1789C>T
ENST00000645760.1:c.3800C>T
ENST00000645884.1:c.*662C>T	ENSP00000495516.1:n.*662C>T
ENST00000646003.1:c.*1481C>T	ENSP00000495259.1:n.*1481C>T
ENST00000646207.1:c.*1992C>T	ENSP00000495025.1:n.*1992C>T
ENST00000646276.1:c.*1798C>T	ENSP00000496070.1:n.*1798C>T
ENST00000646592.1:c.2831C>T
ENST00000646902.1:c.3522C>T	ENSP00000494101.1:p.Tyr1174=
ENST00000646993.1:c.*1921C>T	ENSP00000493720.1:n.*1921C>T
ENST00000647013.1:c.3531C>T	ENSP00000496741.1:n.3531C>T
ENST00000647015.1:c.3276C>T	ENSP00000495389.1:p.Tyr1092=
ENST00000647086.1:c.*3255C>T	ENSP00000493677.1:n.*3255C>T
ENST00000647158.1:c.*1666C>T	ENSP00000495744.1:n.*1666C>T
ENST00000302539.8:c.3528C>T	ENSP00000303960.4:p.Tyr1176=
ENST00000389817.7:c.3525C>T	ENSP00000374467.3:p.Tyr1175=
ENST00000524561.1:n.657C>T
ENST00000527905.5:c.*401C>T	ENSP00000431653.1:n.*401C>T
ENST00000531137.1:n.18C>T
NM_000352.4:c.3525C>T	NP_000343.2:p.Tyr1175=
NM_001287174.1:c.3528C>T	NP_001274103.1:p.Tyr1176=
XM_011520331.1:c.3525C>T	XP_011518633.1:p.Tyr1175=
XM_011520332.1:c.3528C>T	XP_011518634.1:p.Tyr1176=
XM_011520333.1:c.2025C>T	XP_011518635.1:p.Tyr675=
XR_930890.1:n.3591C>T
XR_930892.1:n.3491C>T
XR_930893.1:n.3488C>T
NM_001351295.1:c.3591C>T	NP_001338224.1:p.Tyr1197=
NM_001351296.1:c.3525C>T	NP_001338225.1:p.Tyr1175=
NM_001351297.1:c.3522C>T	NP_001338226.1:p.Tyr1174=
NR_147094.1:n.3674C>T
XM_017018197.2:c.3594C>T	XP_016873686.1:p.Tyr1198=
XM_017018199.1:c.3591C>T	XP_016873688.1:p.Tyr1197=
XM_017018201.2:c.3594C>T	XP_016873690.1:p.Tyr1198=
XM_017018202.1:c.2091C>T	XP_016873691.1:p.Tyr697=
XM_017018204.1:c.1482C>T	XP_016873693.1:p.Tyr494=
XM_024448668.1:c.1893C>T	XP_024304436.1:p.Tyr631=
XR_001747945.2:n.3666C>T
XR_001747946.2:n.3597C>T
XR_002957189.1:n.3746C>T
NM_000352.6:c.3525C>T MANE Select	NP_000343.2:p.Tyr1175=
NM_001287174.2:c.3528C>T	NP_001274103.1:p.Tyr1176=
NM_001351295.2:c.3591C>T	NP_001338224.1:p.Tyr1197=
NM_001351296.2:c.3525C>T	NP_001338225.1:p.Tyr1175=
NM_001351297.2:c.3522C>T	NP_001338226.1:p.Tyr1174=
NR_147094.2:n.3674C>T
NM_001287174.3:c.3528C>T	NP_001274103.1:p.Tyr1176=