Canonical Allele Identifier: CA473298280

Gene: ABCC8

Linked Data

• dbSNP Id: rs1287351199
• gnomAD v2: 11-17417409-G-A
• MyVariant Identifiers: chr11:g.17417409G>A (hg19) ; chr11:g.17395862G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395862G>A , CM000673.2:g.17395862G>A	GRCh38
NC_000011.9:g.17417409G>A , CM000673.1:g.17417409G>A	GRCh37
NC_000011.8:g.17373985G>A	NCBI36
NG_008867.1:g.86041C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3789C>T
ENST00000528374.2:c.779C>T
ENST00000529967.6:n.2527C>T
ENST00000532220.2:n.3421C>T
ENST00000642611.2:n.5388C>T
ENST00000644057.2:n.631C>T
ENST00000645004.2:n.1687C>T
ENST00000682051.1:n.4350C>T
ENST00000682110.1:n.4403C>T
ENST00000682140.1:c.4054C>T	ENSP00000507829.1:p.His1352Tyr
ENST00000682185.1:n.5493C>T
ENST00000682204.1:c.*2326C>T	ENSP00000507094.1:n.*2326C>T
ENST00000682215.1:n.4770C>T
ENST00000682288.1:c.*2619C>T	ENSP00000507506.1:n.*2619C>T
ENST00000682442.1:n.4623C>T
ENST00000682528.1:n.4480C>T
ENST00000682673.1:n.4347C>T
ENST00000682805.1:n.4808C>T
ENST00000682965.1:c.*610C>T	ENSP00000508229.1:n.*610C>T
ENST00000683093.1:n.5487C>T
ENST00000683136.1:c.4071C>T	ENSP00000507768.1:p.Asp1357=
ENST00000683153.1:n.4445C>T
ENST00000683365.1:n.4505C>T
ENST00000683377.1:n.4403C>T
ENST00000683456.1:c.*1325C>T	ENSP00000508318.1:n.*1325C>T
ENST00000683522.1:n.4403C>T
ENST00000683562.1:c.*2357C>T	ENSP00000508265.1:n.*2357C>T
ENST00000683693.1:n.5835C>T
ENST00000683725.1:c.4188C>T	ENSP00000507496.1:p.Asp1396=
ENST00000684010.1:n.4398C>T
ENST00000684157.1:n.5388C>T
ENST00000684253.1:n.4306C>T
ENST00000684288.1:c.*2360C>T	ENSP00000507143.1:n.*2360C>T
ENST00000684313.1:n.3835C>T
ENST00000684332.1:n.4476C>T
ENST00000684371.1:n.4509C>T
ENST00000684404.1:n.5431C>T
ENST00000684442.1:n.4627C>T
ENST00000684555.1:c.*2400C>T	ENSP00000507705.1:n.*2400C>T
ENST00000684571.1:c.4029C>T	ENSP00000506935.1:p.Asp1343=
ENST00000684593.1:c.*3893C>T	ENSP00000507005.1:n.*3893C>T
ENST00000684711.1:c.*2584C>T	ENSP00000506841.1:n.*2584C>T
ENST00000302539.9:c.4191C>T	ENSP00000303960.4:p.Asp1397=
ENST00000389817.8:c.4188C>T MANE Select	ENSP00000374467.4:p.Asp1396=
ENST00000642271.1:c.4185C>T	ENSP00000493749.1:p.Asp1395=
ENST00000642579.1:c.2242C>T
ENST00000642611.1:n.5273C>T
ENST00000642902.1:c.3970C>T
ENST00000643260.1:c.4188C>T	ENSP00000494450.1:p.Asp1396=
ENST00000643562.1:c.*2310C>T	ENSP00000496124.1:n.*2310C>T
ENST00000643925.1:c.2828C>T
ENST00000644057.1:n.265C>T
ENST00000644484.1:c.*3574C>T	ENSP00000493558.1:n.*3574C>T
ENST00000644675.1:c.*2360C>T	ENSP00000494567.1:n.*2360C>T
ENST00000644757.1:c.*3202+402C>T	ENSP00000495085.1:n.*3202+402C>T
ENST00000644772.1:c.4254C>T	ENSP00000494321.1:p.Asp1418=
ENST00000645004.1:n.1881C>T
ENST00000645076.1:c.3387C>T
ENST00000645417.1:c.1376C>T
ENST00000645744.1:c.*3953C>T	ENSP00000494564.1:n.*3953C>T
ENST00000645760.1:c.4609C>T
ENST00000645884.1:c.*1471C>T	ENSP00000495516.1:n.*1471C>T
ENST00000646003.1:c.*2290C>T	ENSP00000495259.1:n.*2290C>T
ENST00000646207.1:c.*3025C>T	ENSP00000495025.1:n.*3025C>T
ENST00000646276.1:c.*3592C>T	ENSP00000496070.1:n.*3592C>T
ENST00000646592.1:c.3494C>T
ENST00000646902.1:c.4155C>T	ENSP00000494101.1:p.Asp1385=
ENST00000646993.1:c.*2730C>T	ENSP00000493720.1:n.*2730C>T
ENST00000647013.1:c.4194C>T	ENSP00000496741.1:n.4194C>T
ENST00000647015.1:c.3939C>T	ENSP00000495389.1:p.Asp1313=
ENST00000647086.1:c.*3774C>T	ENSP00000493677.1:n.*3774C>T
ENST00000647158.1:c.*2475C>T	ENSP00000495744.1:n.*2475C>T
ENST00000302539.8:c.4191C>T	ENSP00000303960.4:p.Asp1397=
ENST00000389817.7:c.4188C>T	ENSP00000374467.3:p.Asp1396=
ENST00000525022.1:n.54C>T
ENST00000526168.5:c.56C>T
ENST00000531642.5:c.24C>T
NM_000352.4:c.4188C>T	NP_000343.2:p.Asp1396=
NM_001287174.1:c.4191C>T	NP_001274103.1:p.Asp1397=
XM_011520331.1:c.4188C>T	XP_011518633.1:p.Asp1396=
XM_011520332.1:c.4191C>T	XP_011518634.1:p.Asp1397=
XM_011520333.1:c.2688C>T	XP_011518635.1:p.Asp896=
XR_930890.1:n.4254C>T
NM_001351295.1:c.4254C>T	NP_001338224.1:p.Asp1418=
NM_001351296.1:c.4188C>T	NP_001338225.1:p.Asp1396=
NM_001351297.1:c.4185C>T	NP_001338226.1:p.Asp1395=
NR_147094.1:n.4483C>T
XM_017018197.2:c.4257C>T	XP_016873686.1:p.Asp1419=
XM_017018199.1:c.4254C>T	XP_016873688.1:p.Asp1418=
XM_017018201.2:c.4257C>T	XP_016873690.1:p.Asp1419=
XM_017018202.1:c.2754C>T	XP_016873691.1:p.Asp918=
XM_017018204.1:c.2145C>T	XP_016873693.1:p.Asp715=
XM_024448668.1:c.2556C>T	XP_024304436.1:p.Asp852=
XR_001747945.2:n.4329C>T
XR_001747946.2:n.4260C>T
XR_002957189.1:n.5910C>T
NM_000352.6:c.4188C>T MANE Select	NP_000343.2:p.Asp1396=
NM_001287174.2:c.4191C>T	NP_001274103.1:p.Asp1397=
NM_001351295.2:c.4254C>T	NP_001338224.1:p.Asp1418=
NM_001351296.2:c.4188C>T	NP_001338225.1:p.Asp1396=
NM_001351297.2:c.4185C>T	NP_001338226.1:p.Asp1395=
NR_147094.2:n.4483C>T
NM_001287174.3:c.4191C>T	NP_001274103.1:p.Asp1397=