Canonical Allele Identifier: CA5902392

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 303748
• ClinVar RCV Id: RCV000259922 ; RCV000317437 ; RCV000979519 ; RCV002244754 ; RCV002244753 ; RCV000357088 ; RCV002338878
• dbSNP Id: rs367862706
• ExAC: 11:17414637 G / A
• gnomAD v2: 11-17414637-G-A
• gnomAD v3: 11-17393090-G-A
• gnomAD v4: 11-17393090-G-A
• MyVariant Identifiers: chr11:g.17414637G>A (hg19) ; chr11:g.17393090G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393090G>A , CM000673.2:g.17393090G>A	GRCh38
NC_000011.9:g.17414637G>A , CM000673.1:g.17414637G>A	GRCh37
NC_000011.8:g.17371213G>A	NCBI36
NG_008867.1:g.88813C>T
NG_012446.1:g.570C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4248C>T
ENST00000526037.6:n.582C>T
ENST00000528374.2:c.1238C>T
ENST00000529967.6:n.2986C>T
ENST00000532220.2:n.3880C>T
ENST00000642611.2:n.5980C>T
ENST00000644057.2:n.1223C>T
ENST00000645004.2:n.2146C>T
ENST00000682051.1:n.4809C>T
ENST00000682110.1:n.4862C>T
ENST00000682140.1:c.*433C>T	ENSP00000507829.1:n.*433C>T
ENST00000682185.1:n.5952C>T
ENST00000682204.1:c.*2785C>T	ENSP00000507094.1:n.*2785C>T
ENST00000682215.1:n.5229C>T
ENST00000682288.1:c.*3078C>T	ENSP00000507506.1:n.*3078C>T
ENST00000682442.1:n.5082C>T
ENST00000682528.1:n.4939C>T
ENST00000682673.1:n.4806C>T
ENST00000682805.1:n.5267C>T
ENST00000682965.1:c.*1069C>T	ENSP00000508229.1:n.*1069C>T
ENST00000683093.1:n.5842C>T
ENST00000683136.1:c.4530C>T	ENSP00000507768.1:p.Ile1510=
ENST00000683153.1:n.4904C>T
ENST00000683365.1:n.4964C>T
ENST00000683377.1:n.4758C>T
ENST00000683456.1:c.*1784C>T	ENSP00000508318.1:n.*1784C>T
ENST00000683522.1:n.4944C>T
ENST00000683562.1:c.*2712C>T	ENSP00000508265.1:n.*2712C>T
ENST00000683693.1:n.6323C>T
ENST00000683725.1:c.*112C>T	ENSP00000507496.1:n.*112C>T
ENST00000684010.1:n.4857C>T
ENST00000684014.1:n.834C>T
ENST00000684157.1:n.5847C>T
ENST00000684253.1:n.4765C>T
ENST00000684288.1:c.*2819C>T	ENSP00000507143.1:n.*2819C>T
ENST00000684313.1:n.4294C>T
ENST00000684332.1:n.4935C>T
ENST00000684371.1:n.4968C>T
ENST00000684404.1:n.5890C>T
ENST00000684442.1:n.5086C>T
ENST00000684555.1:c.*2859C>T	ENSP00000507705.1:n.*2859C>T
ENST00000684571.1:c.4488C>T	ENSP00000506935.1:p.Ile1496=
ENST00000684593.1:c.*4352C>T	ENSP00000507005.1:n.*4352C>T
ENST00000684711.1:c.*3043C>T	ENSP00000506841.1:n.*3043C>T
ENST00000302539.9:c.4650C>T	ENSP00000303960.4:p.Ile1550=
ENST00000389817.8:c.4647C>T MANE Select	ENSP00000374467.4:p.Ile1549=
ENST00000642271.1:c.4644C>T	ENSP00000493749.1:p.Ile1548=
ENST00000642579.1:c.2701C>T
ENST00000642611.1:n.5865C>T
ENST00000642902.1:c.4429C>T
ENST00000643260.1:c.4647C>T	ENSP00000494450.1:p.Ile1549=
ENST00000643562.1:c.*2769C>T	ENSP00000496124.1:n.*2769C>T
ENST00000643925.1:c.3224C>T
ENST00000644057.1:n.806C>T
ENST00000644484.1:c.*4033C>T	ENSP00000493558.1:n.*4033C>T
ENST00000644675.1:c.*2819C>T	ENSP00000494567.1:n.*2819C>T
ENST00000644757.1:c.*3203-110C>T	ENSP00000495085.1:n.*3203-110C>T
ENST00000644772.1:c.4713C>T	ENSP00000494321.1:p.Ile1571=
ENST00000645004.1:n.2340C>T
ENST00000645076.1:c.3742C>T
ENST00000645417.1:c.1835C>T
ENST00000645760.1:c.5068C>T
ENST00000645884.1:c.*1930C>T	ENSP00000495516.1:n.*1930C>T
ENST00000646003.1:c.*2669C>T	ENSP00000495259.1:n.*2669C>T
ENST00000646207.1:c.*3484C>T	ENSP00000495025.1:n.*3484C>T
ENST00000646276.1:c.*4051C>T	ENSP00000496070.1:n.*4051C>T
ENST00000646592.1:c.3953C>T
ENST00000646902.1:c.4614C>T	ENSP00000494101.1:p.Ile1538=
ENST00000646993.1:c.*3085C>T	ENSP00000493720.1:n.*3085C>T
ENST00000647015.1:c.4398C>T	ENSP00000495389.1:p.Ile1466=
ENST00000647086.1:c.*4233C>T	ENSP00000493677.1:n.*4233C>T
ENST00000647158.1:c.*2934C>T	ENSP00000495744.1:n.*2934C>T
ENST00000302539.8:c.4650C>T	ENSP00000303960.4:p.Ile1550=
ENST00000389817.7:c.4647C>T	ENSP00000374467.3:p.Ile1549=
ENST00000525022.1:n.626C>T
ENST00000526037.5:n.407C>T
ENST00000526168.5:c.435C>T
ENST00000531642.5:c.678C>T
NM_000352.4:c.4647C>T	NP_000343.2:p.Ile1549=
NM_001287174.1:c.4650C>T	NP_001274103.1:p.Ile1550=
XM_011520331.1:c.4647C>T	XP_011518633.1:p.Ile1549=
XM_011520333.1:c.3147C>T	XP_011518635.1:p.Ile1049=
XR_930890.1:n.4609C>T
NM_001351295.1:c.4713C>T	NP_001338224.1:p.Ile1571=
NM_001351296.1:c.4647C>T	NP_001338225.1:p.Ile1549=
NM_001351297.1:c.4644C>T	NP_001338226.1:p.Ile1548=
NR_147094.1:n.4942C>T
XM_017018197.2:c.4716C>T	XP_016873686.1:p.Ile1572=
XM_017018199.1:c.4713C>T	XP_016873688.1:p.Ile1571=
XM_017018202.1:c.3213C>T	XP_016873691.1:p.Ile1071=
XM_017018204.1:c.2604C>T	XP_016873693.1:p.Ile868=
XM_024448668.1:c.3015C>T	XP_024304436.1:p.Ile1005=
XR_001747945.2:n.4684C>T
XR_001747946.2:n.4615C>T
XR_002957189.1:n.6398C>T
NM_000352.6:c.4647C>T MANE Select	NP_000343.2:p.Ile1549=
NM_001287174.2:c.4650C>T	NP_001274103.1:p.Ile1550=
NM_001351295.2:c.4713C>T	NP_001338224.1:p.Ile1571=
NM_001351296.2:c.4647C>T	NP_001338225.1:p.Ile1549=
NM_001351297.2:c.4644C>T	NP_001338226.1:p.Ile1548=
NR_147094.2:n.4942C>T
NM_001287174.3:c.4650C>T	NP_001274103.1:p.Ile1550=