Canonical Allele Identifier: CA379785107

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395183-G-T
• MyVariant Identifiers: chr11:g.17416730G>T (hg19) ; chr11:g.17395183G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395183G>T , CM000673.2:g.17395183G>T	GRCh38
NC_000011.9:g.17416730G>T , CM000673.1:g.17416730G>T	GRCh37
NC_000011.8:g.17373306G>T	NCBI36
NG_008867.1:g.86720C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4001C>A
ENST00000526037.6:n.335C>A
ENST00000528374.2:c.991C>A
ENST00000529967.6:n.2739C>A
ENST00000532220.2:n.3633C>A
ENST00000642611.2:n.5733C>A
ENST00000644057.2:n.976C>A
ENST00000645004.2:n.1899C>A
ENST00000682051.1:n.4562C>A
ENST00000682110.1:n.4615C>A
ENST00000682140.1:c.*186C>A	ENSP00000507829.1:n.*186C>A
ENST00000682185.1:n.5705C>A
ENST00000682204.1:c.*2538C>A	ENSP00000507094.1:n.*2538C>A
ENST00000682215.1:n.4982C>A
ENST00000682288.1:c.*2831C>A	ENSP00000507506.1:n.*2831C>A
ENST00000682442.1:n.4835C>A
ENST00000682528.1:n.4692C>A
ENST00000682673.1:n.4559C>A
ENST00000682805.1:n.5020C>A
ENST00000682965.1:c.*822C>A	ENSP00000508229.1:n.*822C>A
ENST00000683093.1:n.5606+427C>A
ENST00000683136.1:c.4283C>A	ENSP00000507768.1:p.Pro1428Gln
ENST00000683153.1:n.4657C>A
ENST00000683365.1:n.4717C>A
ENST00000683377.1:n.4522+427C>A
ENST00000683456.1:c.*1537C>A	ENSP00000508318.1:n.*1537C>A
ENST00000683522.1:n.4615C>A
ENST00000683562.1:c.*2476+427C>A	ENSP00000508265.1:n.*2476+427C>A
ENST00000683693.1:n.6087+427C>A
ENST00000683725.1:c.4307+427C>A	ENSP00000507496.1:n.4307+427C>A
ENST00000684010.1:n.4610C>A
ENST00000684157.1:n.5600C>A
ENST00000684253.1:n.4518C>A
ENST00000684288.1:c.*2572C>A	ENSP00000507143.1:n.*2572C>A
ENST00000684313.1:n.4047C>A
ENST00000684332.1:n.4688C>A
ENST00000684371.1:n.4721C>A
ENST00000684404.1:n.5643C>A
ENST00000684442.1:n.4839C>A
ENST00000684555.1:c.*2612C>A	ENSP00000507705.1:n.*2612C>A
ENST00000684571.1:c.4241C>A	ENSP00000506935.1:p.Pro1414Gln
ENST00000684593.1:c.*4105C>A	ENSP00000507005.1:n.*4105C>A
ENST00000684711.1:c.*2796C>A	ENSP00000506841.1:n.*2796C>A
ENST00000302539.9:c.4403C>A	ENSP00000303960.4:p.Pro1468Gln
ENST00000389817.8:c.4400C>A MANE Select	ENSP00000374467.4:p.Pro1467Gln
ENST00000642271.1:c.4397C>A	ENSP00000493749.1:p.Pro1466Gln
ENST00000642579.1:c.2454C>A
ENST00000642611.1:n.5618C>A
ENST00000642902.1:c.4182C>A
ENST00000643260.1:c.4400C>A	ENSP00000494450.1:p.Pro1467Gln
ENST00000643562.1:c.*2522C>A	ENSP00000496124.1:n.*2522C>A
ENST00000643925.1:c.3040C>A
ENST00000644057.1:n.477C>A
ENST00000644484.1:c.*3786C>A	ENSP00000493558.1:n.*3786C>A
ENST00000644675.1:c.*2572C>A	ENSP00000494567.1:n.*2572C>A
ENST00000644757.1:c.*3202+1081C>A	ENSP00000495085.1:n.*3202+1081C>A
ENST00000644772.1:c.4466C>A	ENSP00000494321.1:p.Pro1489Gln
ENST00000645004.1:n.2093C>A
ENST00000645076.1:c.3506+427C>A
ENST00000645417.1:c.1588C>A
ENST00000645744.1:c.*4085C>A	ENSP00000494564.1:n.*4085C>A
ENST00000645760.1:c.4821C>A
ENST00000645884.1:c.*1683C>A	ENSP00000495516.1:n.*1683C>A
ENST00000646003.1:c.*2422C>A	ENSP00000495259.1:n.*2422C>A
ENST00000646207.1:c.*3237C>A	ENSP00000495025.1:n.*3237C>A
ENST00000646276.1:c.*3804C>A	ENSP00000496070.1:n.*3804C>A
ENST00000646592.1:c.3706C>A
ENST00000646902.1:c.4367C>A	ENSP00000494101.1:p.Pro1456Gln
ENST00000646993.1:c.*2849+427C>A	ENSP00000493720.1:n.*2849+427C>A
ENST00000647013.1:c.4406C>A	ENSP00000496741.1:n.4406C>A
ENST00000647015.1:c.4151C>A	ENSP00000495389.1:p.Pro1384Gln
ENST00000647086.1:c.*3986C>A	ENSP00000493677.1:n.*3986C>A
ENST00000647158.1:c.*2687C>A	ENSP00000495744.1:n.*2687C>A
ENST00000302539.8:c.4403C>A	ENSP00000303960.4:p.Pro1468Gln
ENST00000389817.7:c.4400C>A	ENSP00000374467.3:p.Pro1467Gln
ENST00000525022.1:n.306+427C>A
ENST00000526037.5:n.171+427C>A
ENST00000526168.5:c.188C>A
ENST00000531642.5:c.431C>A
NM_000352.4:c.4400C>A	NP_000343.2:p.Pro1467Gln
NM_001287174.1:c.4403C>A	NP_001274103.1:p.Pro1468Gln
XM_011520331.1:c.4400C>A	XP_011518633.1:p.Pro1467Gln
XM_011520332.1:c.4310+427C>A	XP_011518634.1:n.4310+427C>A
XM_011520333.1:c.2900C>A	XP_011518635.1:p.Pro967Gln
XR_930890.1:n.4373+427C>A
NM_001351295.1:c.4466C>A	NP_001338224.1:p.Pro1489Gln
NM_001351296.1:c.4400C>A	NP_001338225.1:p.Pro1467Gln
NM_001351297.1:c.4397C>A	NP_001338226.1:p.Pro1466Gln
NR_147094.1:n.4695C>A
XM_017018197.2:c.4469C>A	XP_016873686.1:p.Pro1490Gln
XM_017018199.1:c.4466C>A	XP_016873688.1:p.Pro1489Gln
XM_017018201.2:c.4376+427C>A	XP_016873690.1:n.4376+427C>A
XM_017018202.1:c.2966C>A	XP_016873691.1:p.Pro989Gln
XM_017018204.1:c.2357C>A	XP_016873693.1:p.Pro786Gln
XM_024448668.1:c.2768C>A	XP_024304436.1:p.Pro923Gln
XR_001747945.2:n.4448+427C>A
XR_001747946.2:n.4379+427C>A
XR_002957189.1:n.6162+427C>A
NM_000352.6:c.4400C>A MANE Select	NP_000343.2:p.Pro1467Gln
NM_001287174.2:c.4403C>A	NP_001274103.1:p.Pro1468Gln
NM_001351295.2:c.4466C>A	NP_001338224.1:p.Pro1489Gln
NM_001351296.2:c.4400C>A	NP_001338225.1:p.Pro1467Gln
NM_001351297.2:c.4397C>A	NP_001338226.1:p.Pro1466Gln
NR_147094.2:n.4695C>A
NM_001287174.3:c.4403C>A	NP_001274103.1:p.Pro1468Gln