Canonical Allele Identifier: CA473298043

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17393748-G-A
• MyVariant Identifiers: chr11:g.17415295G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393748G>A , CM000673.2:g.17393748G>A	GRCh38
NC_000011.9:g.17415295G>A , CM000673.1:g.17415295G>A	GRCh37
NC_000011.8:g.17371871G>A	NCBI36
NG_008867.1:g.88155C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4158C>T
ENST00000526037.6:n.492C>T
ENST00000528374.2:c.1148C>T
ENST00000529967.6:n.2896C>T
ENST00000532220.2:n.3790C>T
ENST00000642611.2:n.5890C>T
ENST00000644057.2:n.1133C>T
ENST00000645004.2:n.2056C>T
ENST00000682051.1:n.4719C>T
ENST00000682110.1:n.4772C>T
ENST00000682140.1:c.*343C>T	ENSP00000507829.1:n.*343C>T
ENST00000682185.1:n.5862C>T
ENST00000682204.1:c.*2695C>T	ENSP00000507094.1:n.*2695C>T
ENST00000682215.1:n.5139C>T
ENST00000682288.1:c.*2988C>T	ENSP00000507506.1:n.*2988C>T
ENST00000682442.1:n.4992C>T
ENST00000682528.1:n.4849C>T
ENST00000682673.1:n.4716C>T
ENST00000682805.1:n.5177C>T
ENST00000682965.1:c.*979C>T	ENSP00000508229.1:n.*979C>T
ENST00000683093.1:n.5752C>T
ENST00000683136.1:c.4440C>T	ENSP00000507768.1:p.Leu1480=
ENST00000683153.1:n.4814C>T
ENST00000683365.1:n.4874C>T
ENST00000683377.1:n.4668C>T
ENST00000683456.1:c.*1694C>T	ENSP00000508318.1:n.*1694C>T
ENST00000683522.1:n.4854C>T
ENST00000683562.1:c.*2622C>T	ENSP00000508265.1:n.*2622C>T
ENST00000683693.1:n.6233C>T
ENST00000683725.1:c.*22C>T	ENSP00000507496.1:n.*22C>T
ENST00000684010.1:n.4767C>T
ENST00000684014.1:n.744C>T
ENST00000684157.1:n.5757C>T
ENST00000684253.1:n.4675C>T
ENST00000684288.1:c.*2729C>T	ENSP00000507143.1:n.*2729C>T
ENST00000684313.1:n.4204C>T
ENST00000684332.1:n.4845C>T
ENST00000684371.1:n.4878C>T
ENST00000684404.1:n.5800C>T
ENST00000684442.1:n.4996C>T
ENST00000684555.1:c.*2769C>T	ENSP00000507705.1:n.*2769C>T
ENST00000684571.1:c.4398C>T	ENSP00000506935.1:p.Leu1466=
ENST00000684593.1:c.*4262C>T	ENSP00000507005.1:n.*4262C>T
ENST00000684711.1:c.*2953C>T	ENSP00000506841.1:n.*2953C>T
ENST00000302539.9:c.4560C>T	ENSP00000303960.4:p.Leu1520=
ENST00000389817.8:c.4557C>T MANE Select	ENSP00000374467.4:p.Leu1519=
ENST00000642271.1:c.4554C>T	ENSP00000493749.1:p.Leu1518=
ENST00000642579.1:c.2611C>T
ENST00000642611.1:n.5775C>T
ENST00000642902.1:c.4339C>T
ENST00000643260.1:c.4557C>T	ENSP00000494450.1:p.Leu1519=
ENST00000643562.1:c.*2679C>T	ENSP00000496124.1:n.*2679C>T
ENST00000643925.1:c.3185+518C>T
ENST00000644057.1:n.716C>T
ENST00000644484.1:c.*3943C>T	ENSP00000493558.1:n.*3943C>T
ENST00000644675.1:c.*2729C>T	ENSP00000494567.1:n.*2729C>T
ENST00000644757.1:c.*3203-768C>T	ENSP00000495085.1:n.*3203-768C>T
ENST00000644772.1:c.4623C>T	ENSP00000494321.1:p.Leu1541=
ENST00000645004.1:n.2250C>T
ENST00000645076.1:c.3652C>T
ENST00000645417.1:c.1745C>T
ENST00000645744.1:c.*4242C>T	ENSP00000494564.1:n.*4242C>T
ENST00000645760.1:c.4978C>T
ENST00000645884.1:c.*1840C>T	ENSP00000495516.1:n.*1840C>T
ENST00000646003.1:c.*2579C>T	ENSP00000495259.1:n.*2579C>T
ENST00000646207.1:c.*3394C>T	ENSP00000495025.1:n.*3394C>T
ENST00000646276.1:c.*3961C>T	ENSP00000496070.1:n.*3961C>T
ENST00000646592.1:c.3863C>T
ENST00000646902.1:c.4524C>T	ENSP00000494101.1:p.Leu1508=
ENST00000646993.1:c.*2995C>T	ENSP00000493720.1:n.*2995C>T
ENST00000647015.1:c.4308C>T	ENSP00000495389.1:p.Leu1436=
ENST00000647086.1:c.*4143C>T	ENSP00000493677.1:n.*4143C>T
ENST00000647158.1:c.*2844C>T	ENSP00000495744.1:n.*2844C>T
ENST00000302539.8:c.4560C>T	ENSP00000303960.4:p.Leu1520=
ENST00000389817.7:c.4557C>T	ENSP00000374467.3:p.Leu1519=
ENST00000525022.1:n.452C>T
ENST00000526037.5:n.317C>T
ENST00000526168.5:c.345C>T
ENST00000531642.5:c.588C>T
NM_000352.4:c.4557C>T	NP_000343.2:p.Leu1519=
NM_001287174.1:c.4560C>T	NP_001274103.1:p.Leu1520=
XM_011520331.1:c.4557C>T	XP_011518633.1:p.Leu1519=
XM_011520333.1:c.3057C>T	XP_011518635.1:p.Leu1019=
XR_930890.1:n.4519C>T
NM_001351295.1:c.4623C>T	NP_001338224.1:p.Leu1541=
NM_001351296.1:c.4557C>T	NP_001338225.1:p.Leu1519=
NM_001351297.1:c.4554C>T	NP_001338226.1:p.Leu1518=
NR_147094.1:n.4852C>T
XM_017018197.2:c.4626C>T	XP_016873686.1:p.Leu1542=
XM_017018199.1:c.4623C>T	XP_016873688.1:p.Leu1541=
XM_017018202.1:c.3123C>T	XP_016873691.1:p.Leu1041=
XM_017018204.1:c.2514C>T	XP_016873693.1:p.Leu838=
XM_024448668.1:c.2925C>T	XP_024304436.1:p.Leu975=
XR_001747945.2:n.4594C>T
XR_001747946.2:n.4525C>T
XR_002957189.1:n.6308C>T
NM_000352.6:c.4557C>T MANE Select	NP_000343.2:p.Leu1519=
NM_001287174.2:c.4560C>T	NP_001274103.1:p.Leu1520=
NM_001351295.2:c.4623C>T	NP_001338224.1:p.Leu1541=
NM_001351296.2:c.4557C>T	NP_001338225.1:p.Leu1519=
NM_001351297.2:c.4554C>T	NP_001338226.1:p.Leu1518=
NR_147094.2:n.4852C>T
NM_001287174.3:c.4560C>T	NP_001274103.1:p.Leu1520=