Canonical Allele Identifier: CA379782711

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17394272-C-T
• COSMIC: COSM4658363
• MyVariant Identifiers: chr11:g.17415819C>T (hg19) ; chr11:g.17394272C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394272C>T , CM000673.2:g.17394272C>T	GRCh38
NC_000011.9:g.17415819C>T , CM000673.1:g.17415819C>T	GRCh37
NC_000011.8:g.17372395C>T	NCBI36
NG_008867.1:g.87631G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4140G>A
ENST00000526037.6:n.474G>A
ENST00000528374.2:c.1130G>A
ENST00000529967.6:n.2878G>A
ENST00000532220.2:n.3772G>A
ENST00000642611.2:n.5872G>A
ENST00000644057.2:n.1115G>A
ENST00000645004.2:n.2038G>A
ENST00000682051.1:n.4701G>A
ENST00000682110.1:n.4754G>A
ENST00000682140.1:c.*325G>A	ENSP00000507829.1:n.*325G>A
ENST00000682185.1:n.5844G>A
ENST00000682204.1:c.*2677G>A	ENSP00000507094.1:n.*2677G>A
ENST00000682215.1:n.5121G>A
ENST00000682288.1:c.*2970G>A	ENSP00000507506.1:n.*2970G>A
ENST00000682442.1:n.4974G>A
ENST00000682528.1:n.4831G>A
ENST00000682673.1:n.4698G>A
ENST00000682805.1:n.5159G>A
ENST00000682965.1:c.*961G>A	ENSP00000508229.1:n.*961G>A
ENST00000683093.1:n.5734G>A
ENST00000683136.1:c.4422G>A	ENSP00000507768.1:p.Met1474Ile
ENST00000683153.1:n.4796G>A
ENST00000683365.1:n.4856G>A
ENST00000683377.1:n.4650G>A
ENST00000683456.1:c.*1676G>A	ENSP00000508318.1:n.*1676G>A
ENST00000683522.1:n.4836G>A
ENST00000683562.1:c.*2604G>A	ENSP00000508265.1:n.*2604G>A
ENST00000683693.1:n.6215G>A
ENST00000683725.1:c.*4G>A	ENSP00000507496.1:n.*4G>A
ENST00000684010.1:n.4749G>A
ENST00000684014.1:n.726G>A
ENST00000684157.1:n.5739G>A
ENST00000684253.1:n.4657G>A
ENST00000684288.1:c.*2711G>A	ENSP00000507143.1:n.*2711G>A
ENST00000684313.1:n.4186G>A
ENST00000684332.1:n.4827G>A
ENST00000684371.1:n.4860G>A
ENST00000684404.1:n.5782G>A
ENST00000684442.1:n.4978G>A
ENST00000684555.1:c.*2751G>A	ENSP00000507705.1:n.*2751G>A
ENST00000684571.1:c.4380G>A	ENSP00000506935.1:p.Met1460Ile
ENST00000684593.1:c.*4244G>A	ENSP00000507005.1:n.*4244G>A
ENST00000684711.1:c.*2935G>A	ENSP00000506841.1:n.*2935G>A
ENST00000302539.9:c.4542G>A	ENSP00000303960.4:p.Met1514Ile
ENST00000389817.8:c.4539G>A MANE Select	ENSP00000374467.4:p.Met1513Ile
ENST00000642271.1:c.4536G>A	ENSP00000493749.1:p.Met1512Ile
ENST00000642579.1:c.2593G>A
ENST00000642611.1:n.5757G>A
ENST00000642902.1:c.4321G>A
ENST00000643260.1:c.4539G>A	ENSP00000494450.1:p.Met1513Ile
ENST00000643562.1:c.*2661G>A	ENSP00000496124.1:n.*2661G>A
ENST00000643925.1:c.3179G>A
ENST00000644057.1:n.698G>A
ENST00000644484.1:c.*3925G>A	ENSP00000493558.1:n.*3925G>A
ENST00000644675.1:c.*2711G>A	ENSP00000494567.1:n.*2711G>A
ENST00000644757.1:c.*3203-1292G>A	ENSP00000495085.1:n.*3203-1292G>A
ENST00000644772.1:c.4605G>A	ENSP00000494321.1:p.Met1535Ile
ENST00000645004.1:n.2232G>A
ENST00000645076.1:c.3634G>A
ENST00000645417.1:c.1727G>A
ENST00000645744.1:c.*4224G>A	ENSP00000494564.1:n.*4224G>A
ENST00000645760.1:c.4960G>A
ENST00000645884.1:c.*1822G>A	ENSP00000495516.1:n.*1822G>A
ENST00000646003.1:c.*2561G>A	ENSP00000495259.1:n.*2561G>A
ENST00000646207.1:c.*3376G>A	ENSP00000495025.1:n.*3376G>A
ENST00000646276.1:c.*3943G>A	ENSP00000496070.1:n.*3943G>A
ENST00000646592.1:c.3845G>A
ENST00000646902.1:c.4506G>A	ENSP00000494101.1:p.Met1502Ile
ENST00000646993.1:c.*2977G>A	ENSP00000493720.1:n.*2977G>A
ENST00000647015.1:c.4290G>A	ENSP00000495389.1:p.Met1430Ile
ENST00000647086.1:c.*4125G>A	ENSP00000493677.1:n.*4125G>A
ENST00000647158.1:c.*2826G>A	ENSP00000495744.1:n.*2826G>A
ENST00000302539.8:c.4542G>A	ENSP00000303960.4:p.Met1514Ile
ENST00000389817.7:c.4539G>A	ENSP00000374467.3:p.Met1513Ile
ENST00000525022.1:n.434G>A
ENST00000526037.5:n.299G>A
ENST00000526168.5:c.327G>A
ENST00000531642.5:c.570G>A
NM_000352.4:c.4539G>A	NP_000343.2:p.Met1513Ile
NM_001287174.1:c.4542G>A	NP_001274103.1:p.Met1514Ile
XM_011520331.1:c.4539G>A	XP_011518633.1:p.Met1513Ile
XM_011520332.1:c.*4G>A	XP_011518634.1:n.*4G>A
XM_011520333.1:c.3039G>A	XP_011518635.1:p.Met1013Ile
XR_930890.1:n.4501G>A
NM_001351295.1:c.4605G>A	NP_001338224.1:p.Met1535Ile
NM_001351296.1:c.4539G>A	NP_001338225.1:p.Met1513Ile
NM_001351297.1:c.4536G>A	NP_001338226.1:p.Met1512Ile
NR_147094.1:n.4834G>A
XM_017018197.2:c.4608G>A	XP_016873686.1:p.Met1536Ile
XM_017018199.1:c.4605G>A	XP_016873688.1:p.Met1535Ile
XM_017018201.2:c.*4G>A	XP_016873690.1:n.*4G>A
XM_017018202.1:c.3105G>A	XP_016873691.1:p.Met1035Ile
XM_017018204.1:c.2496G>A	XP_016873693.1:p.Met832Ile
XM_024448668.1:c.2907G>A	XP_024304436.1:p.Met969Ile
XR_001747945.2:n.4576G>A
XR_001747946.2:n.4507G>A
XR_002957189.1:n.6290G>A
NM_000352.6:c.4539G>A MANE Select	NP_000343.2:p.Met1513Ile
NM_001287174.2:c.4542G>A	NP_001274103.1:p.Met1514Ile
NM_001351295.2:c.4605G>A	NP_001338224.1:p.Met1535Ile
NM_001351296.2:c.4539G>A	NP_001338225.1:p.Met1513Ile
NM_001351297.2:c.4536G>A	NP_001338226.1:p.Met1512Ile
NR_147094.2:n.4834G>A
NM_001287174.3:c.4542G>A	NP_001274103.1:p.Met1514Ile