Canonical Allele Identifier: CA379786883

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417229A>G (hg19) ; chr11:g.17395682A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395682A>G , CM000673.2:g.17395682A>G	GRCh38
NC_000011.9:g.17417229A>G , CM000673.1:g.17417229A>G	GRCh37
NC_000011.8:g.17373805A>G	NCBI36
NG_008867.1:g.86221T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3836T>C
ENST00000528374.2:c.826T>C
ENST00000529967.6:n.2574T>C
ENST00000532220.2:n.3468T>C
ENST00000642611.2:n.5568T>C
ENST00000644057.2:n.811T>C
ENST00000645004.2:n.1734T>C
ENST00000682051.1:n.4397T>C
ENST00000682110.1:n.4450T>C
ENST00000682140.1:c.*21T>C	ENSP00000507829.1:n.*21T>C
ENST00000682185.1:n.5540T>C
ENST00000682204.1:c.*2373T>C	ENSP00000507094.1:n.*2373T>C
ENST00000682215.1:n.4817T>C
ENST00000682288.1:c.*2666T>C	ENSP00000507506.1:n.*2666T>C
ENST00000682442.1:n.4670T>C
ENST00000682528.1:n.4527T>C
ENST00000682673.1:n.4394T>C
ENST00000682805.1:n.4855T>C
ENST00000682965.1:c.*657T>C	ENSP00000508229.1:n.*657T>C
ENST00000683093.1:n.5534T>C
ENST00000683136.1:c.4118T>C	ENSP00000507768.1:p.Leu1373Pro
ENST00000683153.1:n.4492T>C
ENST00000683365.1:n.4552T>C
ENST00000683377.1:n.4450T>C
ENST00000683456.1:c.*1372T>C	ENSP00000508318.1:n.*1372T>C
ENST00000683522.1:n.4450T>C
ENST00000683562.1:c.*2404T>C	ENSP00000508265.1:n.*2404T>C
ENST00000683693.1:n.6015T>C
ENST00000683725.1:c.4235T>C	ENSP00000507496.1:p.Leu1412Pro
ENST00000684010.1:n.4445T>C
ENST00000684157.1:n.5435T>C
ENST00000684253.1:n.4353T>C
ENST00000684288.1:c.*2407T>C	ENSP00000507143.1:n.*2407T>C
ENST00000684313.1:n.3882T>C
ENST00000684332.1:n.4523T>C
ENST00000684371.1:n.4556T>C
ENST00000684404.1:n.5478T>C
ENST00000684442.1:n.4674T>C
ENST00000684555.1:c.*2447T>C	ENSP00000507705.1:n.*2447T>C
ENST00000684571.1:c.4076T>C	ENSP00000506935.1:p.Leu1359Pro
ENST00000684593.1:c.*3940T>C	ENSP00000507005.1:n.*3940T>C
ENST00000684711.1:c.*2631T>C	ENSP00000506841.1:n.*2631T>C
ENST00000302539.9:c.4238T>C	ENSP00000303960.4:p.Leu1413Pro
ENST00000389817.8:c.4235T>C MANE Select	ENSP00000374467.4:p.Leu1412Pro
ENST00000642271.1:c.4232T>C	ENSP00000493749.1:p.Leu1411Pro
ENST00000642579.1:c.2289T>C
ENST00000642611.1:n.5453T>C
ENST00000642902.1:c.4017T>C
ENST00000643260.1:c.4235T>C	ENSP00000494450.1:p.Leu1412Pro
ENST00000643562.1:c.*2357T>C	ENSP00000496124.1:n.*2357T>C
ENST00000643925.1:c.2875T>C
ENST00000644057.1:n.312T>C
ENST00000644484.1:c.*3621T>C	ENSP00000493558.1:n.*3621T>C
ENST00000644675.1:c.*2407T>C	ENSP00000494567.1:n.*2407T>C
ENST00000644757.1:c.*3202+582T>C	ENSP00000495085.1:n.*3202+582T>C
ENST00000644772.1:c.4301T>C	ENSP00000494321.1:p.Leu1434Pro
ENST00000645004.1:n.1928T>C
ENST00000645076.1:c.3434T>C
ENST00000645417.1:c.1423T>C
ENST00000645744.1:c.*3964-44T>C	ENSP00000494564.1:n.*3964-44T>C
ENST00000645760.1:c.4656T>C
ENST00000645884.1:c.*1518T>C	ENSP00000495516.1:n.*1518T>C
ENST00000646003.1:c.*2301-44T>C	ENSP00000495259.1:n.*2301-44T>C
ENST00000646207.1:c.*3072T>C	ENSP00000495025.1:n.*3072T>C
ENST00000646276.1:c.*3639T>C	ENSP00000496070.1:n.*3639T>C
ENST00000646592.1:c.3541T>C
ENST00000646902.1:c.4202T>C	ENSP00000494101.1:p.Leu1401Pro
ENST00000646993.1:c.*2777T>C	ENSP00000493720.1:n.*2777T>C
ENST00000647013.1:c.4241T>C	ENSP00000496741.1:n.4241T>C
ENST00000647015.1:c.3986T>C	ENSP00000495389.1:p.Leu1329Pro
ENST00000647086.1:c.*3821T>C	ENSP00000493677.1:n.*3821T>C
ENST00000647158.1:c.*2522T>C	ENSP00000495744.1:n.*2522T>C
ENST00000302539.8:c.4238T>C	ENSP00000303960.4:p.Leu1413Pro
ENST00000389817.7:c.4235T>C	ENSP00000374467.3:p.Leu1412Pro
ENST00000525022.1:n.234T>C
ENST00000526037.5:n.99T>C
ENST00000526168.5:c.67-44T>C
ENST00000531642.5:c.71T>C
NM_000352.4:c.4235T>C	NP_000343.2:p.Leu1412Pro
NM_001287174.1:c.4238T>C	NP_001274103.1:p.Leu1413Pro
XM_011520331.1:c.4235T>C	XP_011518633.1:p.Leu1412Pro
XM_011520332.1:c.4238T>C	XP_011518634.1:p.Leu1413Pro
XM_011520333.1:c.2735T>C	XP_011518635.1:p.Leu912Pro
XR_930890.1:n.4301T>C
NM_001351295.1:c.4301T>C	NP_001338224.1:p.Leu1434Pro
NM_001351296.1:c.4235T>C	NP_001338225.1:p.Leu1412Pro
NM_001351297.1:c.4232T>C	NP_001338226.1:p.Leu1411Pro
NR_147094.1:n.4530T>C
XM_017018197.2:c.4304T>C	XP_016873686.1:p.Leu1435Pro
XM_017018199.1:c.4301T>C	XP_016873688.1:p.Leu1434Pro
XM_017018201.2:c.4304T>C	XP_016873690.1:p.Leu1435Pro
XM_017018202.1:c.2801T>C	XP_016873691.1:p.Leu934Pro
XM_017018204.1:c.2192T>C	XP_016873693.1:p.Leu731Pro
XM_024448668.1:c.2603T>C	XP_024304436.1:p.Leu868Pro
XR_001747945.2:n.4376T>C
XR_001747946.2:n.4307T>C
XR_002957189.1:n.6090T>C
NM_000352.6:c.4235T>C MANE Select	NP_000343.2:p.Leu1412Pro
NM_001287174.2:c.4238T>C	NP_001274103.1:p.Leu1413Pro
NM_001351295.2:c.4301T>C	NP_001338224.1:p.Leu1434Pro
NM_001351296.2:c.4235T>C	NP_001338225.1:p.Leu1412Pro
NM_001351297.2:c.4232T>C	NP_001338226.1:p.Leu1411Pro
NR_147094.2:n.4530T>C
NM_001287174.3:c.4238T>C	NP_001274103.1:p.Leu1413Pro