Canonical Allele Identifier: CA379786726

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395667-A-G
• MyVariant Identifiers: chr11:g.17417214A>G (hg19) ; chr11:g.17395667A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395667A>G , CM000673.2:g.17395667A>G	GRCh38
NC_000011.9:g.17417214A>G , CM000673.1:g.17417214A>G	GRCh37
NC_000011.8:g.17373790A>G	NCBI36
NG_008867.1:g.86236T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3851T>C
ENST00000528374.2:c.841T>C
ENST00000529967.6:n.2589T>C
ENST00000532220.2:n.3483T>C
ENST00000642611.2:n.5583T>C
ENST00000644057.2:n.826T>C
ENST00000645004.2:n.1749T>C
ENST00000682051.1:n.4412T>C
ENST00000682110.1:n.4465T>C
ENST00000682140.1:c.*36T>C	ENSP00000507829.1:n.*36T>C
ENST00000682185.1:n.5555T>C
ENST00000682204.1:c.*2388T>C	ENSP00000507094.1:n.*2388T>C
ENST00000682215.1:n.4832T>C
ENST00000682288.1:c.*2681T>C	ENSP00000507506.1:n.*2681T>C
ENST00000682442.1:n.4685T>C
ENST00000682528.1:n.4542T>C
ENST00000682673.1:n.4409T>C
ENST00000682805.1:n.4870T>C
ENST00000682965.1:c.*672T>C	ENSP00000508229.1:n.*672T>C
ENST00000683093.1:n.5549T>C
ENST00000683136.1:c.4133T>C	ENSP00000507768.1:p.Leu1378Pro
ENST00000683153.1:n.4507T>C
ENST00000683365.1:n.4567T>C
ENST00000683377.1:n.4465T>C
ENST00000683456.1:c.*1387T>C	ENSP00000508318.1:n.*1387T>C
ENST00000683522.1:n.4465T>C
ENST00000683562.1:c.*2419T>C	ENSP00000508265.1:n.*2419T>C
ENST00000683693.1:n.6030T>C
ENST00000683725.1:c.4250T>C	ENSP00000507496.1:p.Leu1417Pro
ENST00000684010.1:n.4460T>C
ENST00000684157.1:n.5450T>C
ENST00000684253.1:n.4368T>C
ENST00000684288.1:c.*2422T>C	ENSP00000507143.1:n.*2422T>C
ENST00000684313.1:n.3897T>C
ENST00000684332.1:n.4538T>C
ENST00000684371.1:n.4571T>C
ENST00000684404.1:n.5493T>C
ENST00000684442.1:n.4689T>C
ENST00000684555.1:c.*2462T>C	ENSP00000507705.1:n.*2462T>C
ENST00000684571.1:c.4091T>C	ENSP00000506935.1:p.Leu1364Pro
ENST00000684593.1:c.*3955T>C	ENSP00000507005.1:n.*3955T>C
ENST00000684711.1:c.*2646T>C	ENSP00000506841.1:n.*2646T>C
ENST00000302539.9:c.4253T>C	ENSP00000303960.4:p.Leu1418Pro
ENST00000389817.8:c.4250T>C MANE Select	ENSP00000374467.4:p.Leu1417Pro
ENST00000642271.1:c.4247T>C	ENSP00000493749.1:p.Leu1416Pro
ENST00000642579.1:c.2304T>C
ENST00000642611.1:n.5468T>C
ENST00000642902.1:c.4032T>C
ENST00000643260.1:c.4250T>C	ENSP00000494450.1:p.Leu1417Pro
ENST00000643562.1:c.*2372T>C	ENSP00000496124.1:n.*2372T>C
ENST00000643925.1:c.2890T>C
ENST00000644057.1:n.327T>C
ENST00000644484.1:c.*3636T>C	ENSP00000493558.1:n.*3636T>C
ENST00000644675.1:c.*2422T>C	ENSP00000494567.1:n.*2422T>C
ENST00000644757.1:c.*3202+597T>C	ENSP00000495085.1:n.*3202+597T>C
ENST00000644772.1:c.4316T>C	ENSP00000494321.1:p.Leu1439Pro
ENST00000645004.1:n.1943T>C
ENST00000645076.1:c.3449T>C
ENST00000645417.1:c.1438T>C
ENST00000645744.1:c.*3964-29T>C	ENSP00000494564.1:n.*3964-29T>C
ENST00000645760.1:c.4671T>C
ENST00000645884.1:c.*1533T>C	ENSP00000495516.1:n.*1533T>C
ENST00000646003.1:c.*2301-29T>C	ENSP00000495259.1:n.*2301-29T>C
ENST00000646207.1:c.*3087T>C	ENSP00000495025.1:n.*3087T>C
ENST00000646276.1:c.*3654T>C	ENSP00000496070.1:n.*3654T>C
ENST00000646592.1:c.3556T>C
ENST00000646902.1:c.4217T>C	ENSP00000494101.1:p.Leu1406Pro
ENST00000646993.1:c.*2792T>C	ENSP00000493720.1:n.*2792T>C
ENST00000647013.1:c.4256T>C	ENSP00000496741.1:n.4256T>C
ENST00000647015.1:c.4001T>C	ENSP00000495389.1:p.Leu1334Pro
ENST00000647086.1:c.*3836T>C	ENSP00000493677.1:n.*3836T>C
ENST00000647158.1:c.*2537T>C	ENSP00000495744.1:n.*2537T>C
ENST00000302539.8:c.4253T>C	ENSP00000303960.4:p.Leu1418Pro
ENST00000389817.7:c.4250T>C	ENSP00000374467.3:p.Leu1417Pro
ENST00000525022.1:n.249T>C
ENST00000526037.5:n.114T>C
ENST00000526168.5:c.67-29T>C
ENST00000531642.5:c.86T>C
NM_000352.4:c.4250T>C	NP_000343.2:p.Leu1417Pro
NM_001287174.1:c.4253T>C	NP_001274103.1:p.Leu1418Pro
XM_011520331.1:c.4250T>C	XP_011518633.1:p.Leu1417Pro
XM_011520332.1:c.4253T>C	XP_011518634.1:p.Leu1418Pro
XM_011520333.1:c.2750T>C	XP_011518635.1:p.Leu917Pro
XR_930890.1:n.4316T>C
NM_001351295.1:c.4316T>C	NP_001338224.1:p.Leu1439Pro
NM_001351296.1:c.4250T>C	NP_001338225.1:p.Leu1417Pro
NM_001351297.1:c.4247T>C	NP_001338226.1:p.Leu1416Pro
NR_147094.1:n.4545T>C
XM_017018197.2:c.4319T>C	XP_016873686.1:p.Leu1440Pro
XM_017018199.1:c.4316T>C	XP_016873688.1:p.Leu1439Pro
XM_017018201.2:c.4319T>C	XP_016873690.1:p.Leu1440Pro
XM_017018202.1:c.2816T>C	XP_016873691.1:p.Leu939Pro
XM_017018204.1:c.2207T>C	XP_016873693.1:p.Leu736Pro
XM_024448668.1:c.2618T>C	XP_024304436.1:p.Leu873Pro
XR_001747945.2:n.4391T>C
XR_001747946.2:n.4322T>C
XR_002957189.1:n.6105T>C
NM_000352.6:c.4250T>C MANE Select	NP_000343.2:p.Leu1417Pro
NM_001287174.2:c.4253T>C	NP_001274103.1:p.Leu1418Pro
NM_001351295.2:c.4316T>C	NP_001338224.1:p.Leu1439Pro
NM_001351296.2:c.4250T>C	NP_001338225.1:p.Leu1417Pro
NM_001351297.2:c.4247T>C	NP_001338226.1:p.Leu1416Pro
NR_147094.2:n.4545T>C
NM_001287174.3:c.4253T>C	NP_001274103.1:p.Leu1418Pro