Canonical Allele Identifier: CA473298274

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395717-C-A
• MyVariant Identifiers: chr11:g.17417264C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395717C>A , CM000673.2:g.17395717C>A	GRCh38
NC_000011.9:g.17417264C>A , CM000673.1:g.17417264C>A	GRCh37
NC_000011.8:g.17373840C>A	NCBI36
NG_008867.1:g.86186G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3801G>T
ENST00000528374.2:c.791G>T
ENST00000529967.6:n.2539G>T
ENST00000532220.2:n.3433G>T
ENST00000642611.2:n.5533G>T
ENST00000644057.2:n.776G>T
ENST00000645004.2:n.1699G>T
ENST00000682051.1:n.4362G>T
ENST00000682110.1:n.4415G>T
ENST00000682140.1:c.4066G>T	ENSP00000507829.1:p.Ala1356Ser
ENST00000682185.1:n.5505G>T
ENST00000682204.1:c.*2338G>T	ENSP00000507094.1:n.*2338G>T
ENST00000682215.1:n.4782G>T
ENST00000682288.1:c.*2631G>T	ENSP00000507506.1:n.*2631G>T
ENST00000682442.1:n.4635G>T
ENST00000682528.1:n.4492G>T
ENST00000682673.1:n.4359G>T
ENST00000682805.1:n.4820G>T
ENST00000682965.1:c.*622G>T	ENSP00000508229.1:n.*622G>T
ENST00000683093.1:n.5499G>T
ENST00000683136.1:c.4083G>T	ENSP00000507768.1:p.Gly1361=
ENST00000683153.1:n.4457G>T
ENST00000683365.1:n.4517G>T
ENST00000683377.1:n.4415G>T
ENST00000683456.1:c.*1337G>T	ENSP00000508318.1:n.*1337G>T
ENST00000683522.1:n.4415G>T
ENST00000683562.1:c.*2369G>T	ENSP00000508265.1:n.*2369G>T
ENST00000683693.1:n.5980G>T
ENST00000683725.1:c.4200G>T	ENSP00000507496.1:p.Gly1400=
ENST00000684010.1:n.4410G>T
ENST00000684157.1:n.5400G>T
ENST00000684253.1:n.4318G>T
ENST00000684288.1:c.*2372G>T	ENSP00000507143.1:n.*2372G>T
ENST00000684313.1:n.3847G>T
ENST00000684332.1:n.4488G>T
ENST00000684371.1:n.4521G>T
ENST00000684404.1:n.5443G>T
ENST00000684442.1:n.4639G>T
ENST00000684555.1:c.*2412G>T	ENSP00000507705.1:n.*2412G>T
ENST00000684571.1:c.4041G>T	ENSP00000506935.1:p.Gly1347=
ENST00000684593.1:c.*3905G>T	ENSP00000507005.1:n.*3905G>T
ENST00000684711.1:c.*2596G>T	ENSP00000506841.1:n.*2596G>T
ENST00000302539.9:c.4203G>T	ENSP00000303960.4:p.Gly1401=
ENST00000389817.8:c.4200G>T MANE Select	ENSP00000374467.4:p.Gly1400=
ENST00000642271.1:c.4197G>T	ENSP00000493749.1:p.Gly1399=
ENST00000642579.1:c.2254G>T
ENST00000642611.1:n.5418G>T
ENST00000642902.1:c.3982G>T
ENST00000643260.1:c.4200G>T	ENSP00000494450.1:p.Gly1400=
ENST00000643562.1:c.*2322G>T	ENSP00000496124.1:n.*2322G>T
ENST00000643925.1:c.2840G>T
ENST00000644057.1:n.277G>T
ENST00000644484.1:c.*3586G>T	ENSP00000493558.1:n.*3586G>T
ENST00000644675.1:c.*2372G>T	ENSP00000494567.1:n.*2372G>T
ENST00000644757.1:c.*3202+547G>T	ENSP00000495085.1:n.*3202+547G>T
ENST00000644772.1:c.4266G>T	ENSP00000494321.1:p.Gly1422=
ENST00000645004.1:n.1893G>T
ENST00000645076.1:c.3399G>T
ENST00000645417.1:c.1388G>T
ENST00000645744.1:c.*3964-79G>T	ENSP00000494564.1:n.*3964-79G>T
ENST00000645760.1:c.4621G>T
ENST00000645884.1:c.*1483G>T	ENSP00000495516.1:n.*1483G>T
ENST00000646003.1:c.*2301-79G>T	ENSP00000495259.1:n.*2301-79G>T
ENST00000646207.1:c.*3037G>T	ENSP00000495025.1:n.*3037G>T
ENST00000646276.1:c.*3604G>T	ENSP00000496070.1:n.*3604G>T
ENST00000646592.1:c.3506G>T
ENST00000646902.1:c.4167G>T	ENSP00000494101.1:p.Gly1389=
ENST00000646993.1:c.*2742G>T	ENSP00000493720.1:n.*2742G>T
ENST00000647013.1:c.4206G>T	ENSP00000496741.1:n.4206G>T
ENST00000647015.1:c.3951G>T	ENSP00000495389.1:p.Gly1317=
ENST00000647086.1:c.*3786G>T	ENSP00000493677.1:n.*3786G>T
ENST00000647158.1:c.*2487G>T	ENSP00000495744.1:n.*2487G>T
ENST00000302539.8:c.4203G>T	ENSP00000303960.4:p.Gly1401=
ENST00000389817.7:c.4200G>T	ENSP00000374467.3:p.Gly1400=
ENST00000525022.1:n.199G>T
ENST00000526037.5:n.64G>T
ENST00000526168.5:c.67-79G>T
ENST00000531642.5:c.36G>T
NM_000352.4:c.4200G>T	NP_000343.2:p.Gly1400=
NM_001287174.1:c.4203G>T	NP_001274103.1:p.Gly1401=
XM_011520331.1:c.4200G>T	XP_011518633.1:p.Gly1400=
XM_011520332.1:c.4203G>T	XP_011518634.1:p.Gly1401=
XM_011520333.1:c.2700G>T	XP_011518635.1:p.Gly900=
XR_930890.1:n.4266G>T
NM_001351295.1:c.4266G>T	NP_001338224.1:p.Gly1422=
NM_001351296.1:c.4200G>T	NP_001338225.1:p.Gly1400=
NM_001351297.1:c.4197G>T	NP_001338226.1:p.Gly1399=
NR_147094.1:n.4495G>T
XM_017018197.2:c.4269G>T	XP_016873686.1:p.Gly1423=
XM_017018199.1:c.4266G>T	XP_016873688.1:p.Gly1422=
XM_017018201.2:c.4269G>T	XP_016873690.1:p.Gly1423=
XM_017018202.1:c.2766G>T	XP_016873691.1:p.Gly922=
XM_017018204.1:c.2157G>T	XP_016873693.1:p.Gly719=
XM_024448668.1:c.2568G>T	XP_024304436.1:p.Gly856=
XR_001747945.2:n.4341G>T
XR_001747946.2:n.4272G>T
XR_002957189.1:n.6055G>T
NM_000352.6:c.4200G>T MANE Select	NP_000343.2:p.Gly1400=
NM_001287174.2:c.4203G>T	NP_001274103.1:p.Gly1401=
NM_001351295.2:c.4266G>T	NP_001338224.1:p.Gly1422=
NM_001351296.2:c.4200G>T	NP_001338225.1:p.Gly1400=
NM_001351297.2:c.4197G>T	NP_001338226.1:p.Gly1399=
NR_147094.2:n.4495G>T
NM_001287174.3:c.4203G>T	NP_001274103.1:p.Gly1401=