Canonical Allele Identifier: CA473298546

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418537G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396990G>A , CM000673.2:g.17396990G>A	GRCh38
NC_000011.9:g.17418537G>A , CM000673.1:g.17418537G>A	GRCh37
NC_000011.8:g.17375113G>A	NCBI36
NG_008867.1:g.84913C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3646C>T
ENST00000528374.2:c.636C>T
ENST00000529967.6:n.2384C>T
ENST00000532220.2:n.2293C>T
ENST00000642611.2:n.4260C>T
ENST00000644057.2:n.488C>T
ENST00000645004.2:n.1544C>T
ENST00000682051.1:n.4207C>T
ENST00000682110.1:n.4260C>T
ENST00000682140.1:c.3985+203C>T	ENSP00000507829.1:n.3985+203C>T
ENST00000682185.1:n.5350C>T
ENST00000682204.1:c.*2183C>T	ENSP00000507094.1:n.*2183C>T
ENST00000682215.1:n.4627C>T
ENST00000682288.1:c.*2476C>T	ENSP00000507506.1:n.*2476C>T
ENST00000682442.1:n.4480C>T
ENST00000682528.1:n.4337C>T
ENST00000682673.1:n.4204C>T
ENST00000682805.1:n.4627C>T
ENST00000682965.1:c.*467C>T	ENSP00000508229.1:n.*467C>T
ENST00000683093.1:n.4359C>T
ENST00000683136.1:c.3928C>T	ENSP00000507768.1:p.Leu1310=
ENST00000683153.1:n.4302C>T
ENST00000683365.1:n.4362C>T
ENST00000683377.1:n.4260C>T
ENST00000683456.1:c.*1182C>T	ENSP00000508318.1:n.*1182C>T
ENST00000683522.1:n.4260C>T
ENST00000683562.1:c.*2214C>T	ENSP00000508265.1:n.*2214C>T
ENST00000683693.1:n.4707C>T
ENST00000683725.1:c.4045C>T	ENSP00000507496.1:p.Leu1349=
ENST00000684010.1:n.4255C>T
ENST00000684157.1:n.4260C>T
ENST00000684253.1:n.4163C>T
ENST00000684288.1:c.*2217C>T	ENSP00000507143.1:n.*2217C>T
ENST00000684313.1:n.3692C>T
ENST00000684332.1:n.4333C>T
ENST00000684371.1:n.4366C>T
ENST00000684404.1:n.4303C>T
ENST00000684442.1:n.4484C>T
ENST00000684555.1:c.*2257C>T	ENSP00000507705.1:n.*2257C>T
ENST00000684571.1:c.3886C>T	ENSP00000506935.1:p.Leu1296=
ENST00000684593.1:c.*3750C>T	ENSP00000507005.1:n.*3750C>T
ENST00000684711.1:c.*2441C>T	ENSP00000506841.1:n.*2441C>T
ENST00000302539.9:c.4048C>T	ENSP00000303960.4:p.Leu1350=
ENST00000389817.8:c.4045C>T MANE Select	ENSP00000374467.4:p.Leu1349=
ENST00000642271.1:c.4042C>T	ENSP00000493749.1:p.Leu1348=
ENST00000642579.1:c.2099C>T
ENST00000642611.1:n.4145C>T
ENST00000642902.1:c.3827C>T
ENST00000643260.1:c.4045C>T	ENSP00000494450.1:p.Leu1349=
ENST00000643562.1:c.*2167C>T	ENSP00000496124.1:n.*2167C>T
ENST00000643925.1:c.2685C>T
ENST00000644057.1:n.122C>T
ENST00000644484.1:c.*2446C>T	ENSP00000493558.1:n.*2446C>T
ENST00000644675.1:c.*2217C>T	ENSP00000494567.1:n.*2217C>T
ENST00000644757.1:c.*2476C>T	ENSP00000495085.1:n.*2476C>T
ENST00000644772.1:c.4111C>T	ENSP00000494321.1:p.Leu1371=
ENST00000645004.1:n.1700C>T
ENST00000645076.1:c.3244C>T
ENST00000645417.1:c.1233C>T
ENST00000645744.1:c.*2825C>T	ENSP00000494564.1:n.*2825C>T
ENST00000645760.1:c.4466C>T
ENST00000645884.1:c.*1328C>T	ENSP00000495516.1:n.*1328C>T
ENST00000646003.1:c.*2147C>T	ENSP00000495259.1:n.*2147C>T
ENST00000646207.1:c.*2882C>T	ENSP00000495025.1:n.*2882C>T
ENST00000646276.1:c.*2464C>T	ENSP00000496070.1:n.*2464C>T
ENST00000646592.1:c.3351C>T
ENST00000646902.1:c.4012C>T	ENSP00000494101.1:p.Leu1338=
ENST00000646993.1:c.*2587C>T	ENSP00000493720.1:n.*2587C>T
ENST00000647013.1:c.4051C>T	ENSP00000496741.1:n.4051C>T
ENST00000647015.1:c.3796C>T	ENSP00000495389.1:p.Leu1266=
ENST00000647086.1:c.*3631C>T	ENSP00000493677.1:n.*3631C>T
ENST00000647158.1:c.*2332C>T	ENSP00000495744.1:n.*2332C>T
ENST00000302539.8:c.4048C>T	ENSP00000303960.4:p.Leu1350=
ENST00000389817.7:c.4045C>T	ENSP00000374467.3:p.Leu1349=
ENST00000527905.5:c.*1067C>T	ENSP00000431653.1:n.*1067C>T
ENST00000528374.1:c.527C>T
ENST00000531137.1:n.610C>T
ENST00000531891.1:c.383C>T
ENST00000532220.1:n.519C>T
NM_000352.4:c.4045C>T	NP_000343.2:p.Leu1349=
NM_001287174.1:c.4048C>T	NP_001274103.1:p.Leu1350=
XM_011520331.1:c.4045C>T	XP_011518633.1:p.Leu1349=
XM_011520332.1:c.4048C>T	XP_011518634.1:p.Leu1350=
XM_011520333.1:c.2545C>T	XP_011518635.1:p.Leu849=
XR_930890.1:n.4111C>T
NM_001351295.1:c.4111C>T	NP_001338224.1:p.Leu1371=
NM_001351296.1:c.4045C>T	NP_001338225.1:p.Leu1349=
NM_001351297.1:c.4042C>T	NP_001338226.1:p.Leu1348=
NR_147094.1:n.4340C>T
XM_017018197.2:c.4114C>T	XP_016873686.1:p.Leu1372=
XM_017018199.1:c.4111C>T	XP_016873688.1:p.Leu1371=
XM_017018201.2:c.4114C>T	XP_016873690.1:p.Leu1372=
XM_017018202.1:c.2611C>T	XP_016873691.1:p.Leu871=
XM_017018204.1:c.2002C>T	XP_016873693.1:p.Leu668=
XM_024448668.1:c.2413C>T	XP_024304436.1:p.Leu805=
XR_001747945.2:n.4186C>T
XR_001747946.2:n.4117C>T
XR_002957189.1:n.4782C>T
NM_000352.6:c.4045C>T MANE Select	NP_000343.2:p.Leu1349=
NM_001287174.2:c.4048C>T	NP_001274103.1:p.Leu1350=
NM_001351295.2:c.4111C>T	NP_001338224.1:p.Leu1371=
NM_001351296.2:c.4045C>T	NP_001338225.1:p.Leu1349=
NM_001351297.2:c.4042C>T	NP_001338226.1:p.Leu1348=
NR_147094.2:n.4340C>T
NM_001287174.3:c.4048C>T	NP_001274103.1:p.Leu1350=