Canonical Allele Identifier: CA379782201

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1312141
• ClinVar RCV Id: RCV001761362
• dbSNP Id: rs2133393193
• MyVariant Identifiers: chr11:g.17415297G>A (hg19) ; chr11:g.17393750G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393750G>A , CM000673.2:g.17393750G>A	GRCh38
NC_000011.9:g.17415297G>A , CM000673.1:g.17415297G>A	GRCh37
NC_000011.8:g.17371873G>A	NCBI36
NG_008867.1:g.88153C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4156C>T
ENST00000526037.6:n.490C>T
ENST00000528374.2:c.1146C>T
ENST00000529967.6:n.2894C>T
ENST00000532220.2:n.3788C>T
ENST00000642611.2:n.5888C>T
ENST00000644057.2:n.1131C>T
ENST00000645004.2:n.2054C>T
ENST00000682051.1:n.4717C>T
ENST00000682110.1:n.4770C>T
ENST00000682140.1:c.*341C>T	ENSP00000507829.1:n.*341C>T
ENST00000682185.1:n.5860C>T
ENST00000682204.1:c.*2693C>T	ENSP00000507094.1:n.*2693C>T
ENST00000682215.1:n.5137C>T
ENST00000682288.1:c.*2986C>T	ENSP00000507506.1:n.*2986C>T
ENST00000682442.1:n.4990C>T
ENST00000682528.1:n.4847C>T
ENST00000682673.1:n.4714C>T
ENST00000682805.1:n.5175C>T
ENST00000682965.1:c.*977C>T	ENSP00000508229.1:n.*977C>T
ENST00000683093.1:n.5750C>T
ENST00000683136.1:c.4438C>T	ENSP00000507768.1:p.Leu1480Phe
ENST00000683153.1:n.4812C>T
ENST00000683365.1:n.4872C>T
ENST00000683377.1:n.4666C>T
ENST00000683456.1:c.*1692C>T	ENSP00000508318.1:n.*1692C>T
ENST00000683522.1:n.4852C>T
ENST00000683562.1:c.*2620C>T	ENSP00000508265.1:n.*2620C>T
ENST00000683693.1:n.6231C>T
ENST00000683725.1:c.*20C>T	ENSP00000507496.1:n.*20C>T
ENST00000684010.1:n.4765C>T
ENST00000684014.1:n.742C>T
ENST00000684157.1:n.5755C>T
ENST00000684253.1:n.4673C>T
ENST00000684288.1:c.*2727C>T	ENSP00000507143.1:n.*2727C>T
ENST00000684313.1:n.4202C>T
ENST00000684332.1:n.4843C>T
ENST00000684371.1:n.4876C>T
ENST00000684404.1:n.5798C>T
ENST00000684442.1:n.4994C>T
ENST00000684555.1:c.*2767C>T	ENSP00000507705.1:n.*2767C>T
ENST00000684571.1:c.4396C>T	ENSP00000506935.1:p.Leu1466Phe
ENST00000684593.1:c.*4260C>T	ENSP00000507005.1:n.*4260C>T
ENST00000684711.1:c.*2951C>T	ENSP00000506841.1:n.*2951C>T
ENST00000302539.9:c.4558C>T	ENSP00000303960.4:p.Leu1520Phe
ENST00000389817.8:c.4555C>T MANE Select	ENSP00000374467.4:p.Leu1519Phe
ENST00000642271.1:c.4552C>T	ENSP00000493749.1:p.Leu1518Phe
ENST00000642579.1:c.2609C>T
ENST00000642611.1:n.5773C>T
ENST00000642902.1:c.4337C>T
ENST00000643260.1:c.4555C>T	ENSP00000494450.1:p.Leu1519Phe
ENST00000643562.1:c.*2677C>T	ENSP00000496124.1:n.*2677C>T
ENST00000643925.1:c.3185+516C>T
ENST00000644057.1:n.714C>T
ENST00000644484.1:c.*3941C>T	ENSP00000493558.1:n.*3941C>T
ENST00000644675.1:c.*2727C>T	ENSP00000494567.1:n.*2727C>T
ENST00000644757.1:c.*3203-770C>T	ENSP00000495085.1:n.*3203-770C>T
ENST00000644772.1:c.4621C>T	ENSP00000494321.1:p.Leu1541Phe
ENST00000645004.1:n.2248C>T
ENST00000645076.1:c.3650C>T
ENST00000645417.1:c.1743C>T
ENST00000645744.1:c.*4240C>T	ENSP00000494564.1:n.*4240C>T
ENST00000645760.1:c.4976C>T
ENST00000645884.1:c.*1838C>T	ENSP00000495516.1:n.*1838C>T
ENST00000646003.1:c.*2577C>T	ENSP00000495259.1:n.*2577C>T
ENST00000646207.1:c.*3392C>T	ENSP00000495025.1:n.*3392C>T
ENST00000646276.1:c.*3959C>T	ENSP00000496070.1:n.*3959C>T
ENST00000646592.1:c.3861C>T
ENST00000646902.1:c.4522C>T	ENSP00000494101.1:p.Leu1508Phe
ENST00000646993.1:c.*2993C>T	ENSP00000493720.1:n.*2993C>T
ENST00000647015.1:c.4306C>T	ENSP00000495389.1:p.Leu1436Phe
ENST00000647086.1:c.*4141C>T	ENSP00000493677.1:n.*4141C>T
ENST00000647158.1:c.*2842C>T	ENSP00000495744.1:n.*2842C>T
ENST00000302539.8:c.4558C>T	ENSP00000303960.4:p.Leu1520Phe
ENST00000389817.7:c.4555C>T	ENSP00000374467.3:p.Leu1519Phe
ENST00000525022.1:n.450C>T
ENST00000526037.5:n.315C>T
ENST00000526168.5:c.343C>T
ENST00000531642.5:c.586C>T
NM_000352.4:c.4555C>T	NP_000343.2:p.Leu1519Phe
NM_001287174.1:c.4558C>T	NP_001274103.1:p.Leu1520Phe
XM_011520331.1:c.4555C>T	XP_011518633.1:p.Leu1519Phe
XM_011520333.1:c.3055C>T	XP_011518635.1:p.Leu1019Phe
XR_930890.1:n.4517C>T
NM_001351295.1:c.4621C>T	NP_001338224.1:p.Leu1541Phe
NM_001351296.1:c.4555C>T	NP_001338225.1:p.Leu1519Phe
NM_001351297.1:c.4552C>T	NP_001338226.1:p.Leu1518Phe
NR_147094.1:n.4850C>T
XM_017018197.2:c.4624C>T	XP_016873686.1:p.Leu1542Phe
XM_017018199.1:c.4621C>T	XP_016873688.1:p.Leu1541Phe
XM_017018202.1:c.3121C>T	XP_016873691.1:p.Leu1041Phe
XM_017018204.1:c.2512C>T	XP_016873693.1:p.Leu838Phe
XM_024448668.1:c.2923C>T	XP_024304436.1:p.Leu975Phe
XR_001747945.2:n.4592C>T
XR_001747946.2:n.4523C>T
XR_002957189.1:n.6306C>T
NM_000352.6:c.4555C>T MANE Select	NP_000343.2:p.Leu1519Phe
NM_001287174.2:c.4558C>T	NP_001274103.1:p.Leu1520Phe
NM_001351295.2:c.4621C>T	NP_001338224.1:p.Leu1541Phe
NM_001351296.2:c.4555C>T	NP_001338225.1:p.Leu1519Phe
NM_001351297.2:c.4552C>T	NP_001338226.1:p.Leu1518Phe
NR_147094.2:n.4850C>T
NM_001287174.3:c.4558C>T	NP_001274103.1:p.Leu1520Phe