Canonical Allele Identifier: CA473298537

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 798361
• ClinVar RCV Id: RCV000981902 ; RCV002245812 ; RCV002245811
• dbSNP Id: rs1591714060
• gnomAD v4: 11-17396973-G-A
• MyVariant Identifiers: chr11:g.17418520G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396973G>A , CM000673.2:g.17396973G>A	GRCh38
NC_000011.9:g.17418520G>A , CM000673.1:g.17418520G>A	GRCh37
NC_000011.8:g.17375096G>A	NCBI36
NG_008867.1:g.84930C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3663C>T
ENST00000528374.2:c.653C>T
ENST00000529967.6:n.2401C>T
ENST00000532220.2:n.2310C>T
ENST00000642611.2:n.4277C>T
ENST00000644057.2:n.505C>T
ENST00000645004.2:n.1561C>T
ENST00000682051.1:n.4224C>T
ENST00000682110.1:n.4277C>T
ENST00000682140.1:c.3985+220C>T	ENSP00000507829.1:n.3985+220C>T
ENST00000682185.1:n.5367C>T
ENST00000682204.1:c.*2200C>T	ENSP00000507094.1:n.*2200C>T
ENST00000682215.1:n.4644C>T
ENST00000682288.1:c.*2493C>T	ENSP00000507506.1:n.*2493C>T
ENST00000682442.1:n.4497C>T
ENST00000682528.1:n.4354C>T
ENST00000682673.1:n.4221C>T
ENST00000682805.1:n.4644C>T
ENST00000682965.1:c.*484C>T	ENSP00000508229.1:n.*484C>T
ENST00000683093.1:n.4376C>T
ENST00000683136.1:c.3945C>T	ENSP00000507768.1:p.Asp1315=
ENST00000683153.1:n.4319C>T
ENST00000683365.1:n.4379C>T
ENST00000683377.1:n.4277C>T
ENST00000683456.1:c.*1199C>T	ENSP00000508318.1:n.*1199C>T
ENST00000683522.1:n.4277C>T
ENST00000683562.1:c.*2231C>T	ENSP00000508265.1:n.*2231C>T
ENST00000683693.1:n.4724C>T
ENST00000683725.1:c.4062C>T	ENSP00000507496.1:p.Asp1354=
ENST00000684010.1:n.4272C>T
ENST00000684157.1:n.4277C>T
ENST00000684253.1:n.4180C>T
ENST00000684288.1:c.*2234C>T	ENSP00000507143.1:n.*2234C>T
ENST00000684313.1:n.3709C>T
ENST00000684332.1:n.4350C>T
ENST00000684371.1:n.4383C>T
ENST00000684404.1:n.4320C>T
ENST00000684442.1:n.4501C>T
ENST00000684555.1:c.*2274C>T	ENSP00000507705.1:n.*2274C>T
ENST00000684571.1:c.3903C>T	ENSP00000506935.1:p.Asp1301=
ENST00000684593.1:c.*3767C>T	ENSP00000507005.1:n.*3767C>T
ENST00000684711.1:c.*2458C>T	ENSP00000506841.1:n.*2458C>T
ENST00000302539.9:c.4065C>T	ENSP00000303960.4:p.Asp1355=
ENST00000389817.8:c.4062C>T MANE Select	ENSP00000374467.4:p.Asp1354=
ENST00000642271.1:c.4059C>T	ENSP00000493749.1:p.Asp1353=
ENST00000642579.1:c.2116C>T
ENST00000642611.1:n.4162C>T
ENST00000642902.1:c.3844C>T
ENST00000643260.1:c.4062C>T	ENSP00000494450.1:p.Asp1354=
ENST00000643562.1:c.*2184C>T	ENSP00000496124.1:n.*2184C>T
ENST00000643925.1:c.2702C>T
ENST00000644057.1:n.139C>T
ENST00000644484.1:c.*2463C>T	ENSP00000493558.1:n.*2463C>T
ENST00000644675.1:c.*2234C>T	ENSP00000494567.1:n.*2234C>T
ENST00000644757.1:c.*2493C>T	ENSP00000495085.1:n.*2493C>T
ENST00000644772.1:c.4128C>T	ENSP00000494321.1:p.Asp1376=
ENST00000645004.1:n.1717C>T
ENST00000645076.1:c.3261C>T
ENST00000645417.1:c.1250C>T
ENST00000645744.1:c.*2842C>T	ENSP00000494564.1:n.*2842C>T
ENST00000645760.1:c.4483C>T
ENST00000645884.1:c.*1345C>T	ENSP00000495516.1:n.*1345C>T
ENST00000646003.1:c.*2164C>T	ENSP00000495259.1:n.*2164C>T
ENST00000646207.1:c.*2899C>T	ENSP00000495025.1:n.*2899C>T
ENST00000646276.1:c.*2481C>T	ENSP00000496070.1:n.*2481C>T
ENST00000646592.1:c.3368C>T
ENST00000646902.1:c.4029C>T	ENSP00000494101.1:p.Asp1343=
ENST00000646993.1:c.*2604C>T	ENSP00000493720.1:n.*2604C>T
ENST00000647013.1:c.4068C>T	ENSP00000496741.1:n.4068C>T
ENST00000647015.1:c.3813C>T	ENSP00000495389.1:p.Asp1271=
ENST00000647086.1:c.*3648C>T	ENSP00000493677.1:n.*3648C>T
ENST00000647158.1:c.*2349C>T	ENSP00000495744.1:n.*2349C>T
ENST00000302539.8:c.4065C>T	ENSP00000303960.4:p.Asp1355=
ENST00000389817.7:c.4062C>T	ENSP00000374467.3:p.Asp1354=
ENST00000527905.5:c.*1084C>T	ENSP00000431653.1:n.*1084C>T
ENST00000528374.1:c.544C>T
ENST00000531137.1:n.627C>T
ENST00000531891.1:c.400C>T
ENST00000532220.1:n.536C>T
NM_000352.4:c.4062C>T	NP_000343.2:p.Asp1354=
NM_001287174.1:c.4065C>T	NP_001274103.1:p.Asp1355=
XM_011520331.1:c.4062C>T	XP_011518633.1:p.Asp1354=
XM_011520332.1:c.4065C>T	XP_011518634.1:p.Asp1355=
XM_011520333.1:c.2562C>T	XP_011518635.1:p.Asp854=
XR_930890.1:n.4128C>T
NM_001351295.1:c.4128C>T	NP_001338224.1:p.Asp1376=
NM_001351296.1:c.4062C>T	NP_001338225.1:p.Asp1354=
NM_001351297.1:c.4059C>T	NP_001338226.1:p.Asp1353=
NR_147094.1:n.4357C>T
XM_017018197.2:c.4131C>T	XP_016873686.1:p.Asp1377=
XM_017018199.1:c.4128C>T	XP_016873688.1:p.Asp1376=
XM_017018201.2:c.4131C>T	XP_016873690.1:p.Asp1377=
XM_017018202.1:c.2628C>T	XP_016873691.1:p.Asp876=
XM_017018204.1:c.2019C>T	XP_016873693.1:p.Asp673=
XM_024448668.1:c.2430C>T	XP_024304436.1:p.Asp810=
XR_001747945.2:n.4203C>T
XR_001747946.2:n.4134C>T
XR_002957189.1:n.4799C>T
NM_000352.6:c.4062C>T MANE Select	NP_000343.2:p.Asp1354=
NM_001287174.2:c.4065C>T	NP_001274103.1:p.Asp1355=
NM_001351295.2:c.4128C>T	NP_001338224.1:p.Asp1376=
NM_001351296.2:c.4062C>T	NP_001338225.1:p.Asp1354=
NM_001351297.2:c.4059C>T	NP_001338226.1:p.Asp1353=
NR_147094.2:n.4357C>T
NM_001287174.3:c.4065C>T	NP_001274103.1:p.Asp1355=