Canonical Allele Identifier: CA218408172

Gene: ABCC8

Linked Data

• dbSNP Id: rs867808568
• gnomAD v4: 11-17395868-C-A
• MyVariant Identifiers: chr11:g.17417415C>A (hg19) ; chr11:g.17395868C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395868C>A , CM000673.2:g.17395868C>A	GRCh38
NC_000011.9:g.17417415C>A , CM000673.1:g.17417415C>A	GRCh37
NC_000011.8:g.17373991C>A	NCBI36
NG_008867.1:g.86035G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3783G>T
ENST00000528374.2:c.773G>T
ENST00000529967.6:n.2521G>T
ENST00000532220.2:n.3415G>T
ENST00000642611.2:n.5382G>T
ENST00000644057.2:n.625G>T
ENST00000645004.2:n.1681G>T
ENST00000682051.1:n.4344G>T
ENST00000682110.1:n.4397G>T
ENST00000682140.1:c.4048G>T	ENSP00000507829.1:p.Gly1350Cys
ENST00000682185.1:n.5487G>T
ENST00000682204.1:c.*2320G>T	ENSP00000507094.1:n.*2320G>T
ENST00000682215.1:n.4764G>T
ENST00000682288.1:c.*2613G>T	ENSP00000507506.1:n.*2613G>T
ENST00000682442.1:n.4617G>T
ENST00000682528.1:n.4474G>T
ENST00000682673.1:n.4341G>T
ENST00000682805.1:n.4802G>T
ENST00000682965.1:c.*604G>T	ENSP00000508229.1:n.*604G>T
ENST00000683093.1:n.5481G>T
ENST00000683136.1:c.4065G>T	ENSP00000507768.1:p.Met1355Ile
ENST00000683153.1:n.4439G>T
ENST00000683365.1:n.4499G>T
ENST00000683377.1:n.4397G>T
ENST00000683456.1:c.*1319G>T	ENSP00000508318.1:n.*1319G>T
ENST00000683522.1:n.4397G>T
ENST00000683562.1:c.*2351G>T	ENSP00000508265.1:n.*2351G>T
ENST00000683693.1:n.5829G>T
ENST00000683725.1:c.4182G>T	ENSP00000507496.1:p.Met1394Ile
ENST00000684010.1:n.4392G>T
ENST00000684157.1:n.5382G>T
ENST00000684253.1:n.4300G>T
ENST00000684288.1:c.*2354G>T	ENSP00000507143.1:n.*2354G>T
ENST00000684313.1:n.3829G>T
ENST00000684332.1:n.4470G>T
ENST00000684371.1:n.4503G>T
ENST00000684404.1:n.5425G>T
ENST00000684442.1:n.4621G>T
ENST00000684555.1:c.*2394G>T	ENSP00000507705.1:n.*2394G>T
ENST00000684571.1:c.4023G>T	ENSP00000506935.1:p.Met1341Ile
ENST00000684593.1:c.*3887G>T	ENSP00000507005.1:n.*3887G>T
ENST00000684711.1:c.*2578G>T	ENSP00000506841.1:n.*2578G>T
ENST00000302539.9:c.4185G>T	ENSP00000303960.4:p.Met1395Ile
ENST00000389817.8:c.4182G>T MANE Select	ENSP00000374467.4:p.Met1394Ile
ENST00000642271.1:c.4179G>T	ENSP00000493749.1:p.Met1393Ile
ENST00000642579.1:c.2236G>T
ENST00000642611.1:n.5267G>T
ENST00000642902.1:c.3964G>T
ENST00000643260.1:c.4182G>T	ENSP00000494450.1:p.Met1394Ile
ENST00000643562.1:c.*2304G>T	ENSP00000496124.1:n.*2304G>T
ENST00000643925.1:c.2822G>T
ENST00000644057.1:n.259G>T
ENST00000644484.1:c.*3568G>T	ENSP00000493558.1:n.*3568G>T
ENST00000644675.1:c.*2354G>T	ENSP00000494567.1:n.*2354G>T
ENST00000644757.1:c.*3202+396G>T	ENSP00000495085.1:n.*3202+396G>T
ENST00000644772.1:c.4248G>T	ENSP00000494321.1:p.Met1416Ile
ENST00000645004.1:n.1875G>T
ENST00000645076.1:c.3381G>T
ENST00000645417.1:c.1370G>T
ENST00000645744.1:c.*3947G>T	ENSP00000494564.1:n.*3947G>T
ENST00000645760.1:c.4603G>T
ENST00000645884.1:c.*1465G>T	ENSP00000495516.1:n.*1465G>T
ENST00000646003.1:c.*2284G>T	ENSP00000495259.1:n.*2284G>T
ENST00000646207.1:c.*3019G>T	ENSP00000495025.1:n.*3019G>T
ENST00000646276.1:c.*3586G>T	ENSP00000496070.1:n.*3586G>T
ENST00000646592.1:c.3488G>T
ENST00000646902.1:c.4149G>T	ENSP00000494101.1:p.Met1383Ile
ENST00000646993.1:c.*2724G>T	ENSP00000493720.1:n.*2724G>T
ENST00000647013.1:c.4188G>T	ENSP00000496741.1:n.4188G>T
ENST00000647015.1:c.3933G>T	ENSP00000495389.1:p.Met1311Ile
ENST00000647086.1:c.*3768G>T	ENSP00000493677.1:n.*3768G>T
ENST00000647158.1:c.*2469G>T	ENSP00000495744.1:n.*2469G>T
ENST00000302539.8:c.4185G>T	ENSP00000303960.4:p.Met1395Ile
ENST00000389817.7:c.4182G>T	ENSP00000374467.3:p.Met1394Ile
ENST00000525022.1:n.48G>T
ENST00000526168.5:c.50G>T
ENST00000531642.5:c.18G>T
NM_000352.4:c.4182G>T	NP_000343.2:p.Met1394Ile
NM_001287174.1:c.4185G>T	NP_001274103.1:p.Met1395Ile
XM_011520331.1:c.4182G>T	XP_011518633.1:p.Met1394Ile
XM_011520332.1:c.4185G>T	XP_011518634.1:p.Met1395Ile
XM_011520333.1:c.2682G>T	XP_011518635.1:p.Met894Ile
XR_930890.1:n.4248G>T
NM_001351295.1:c.4248G>T	NP_001338224.1:p.Met1416Ile
NM_001351296.1:c.4182G>T	NP_001338225.1:p.Met1394Ile
NM_001351297.1:c.4179G>T	NP_001338226.1:p.Met1393Ile
NR_147094.1:n.4477G>T
XM_017018197.2:c.4251G>T	XP_016873686.1:p.Met1417Ile
XM_017018199.1:c.4248G>T	XP_016873688.1:p.Met1416Ile
XM_017018201.2:c.4251G>T	XP_016873690.1:p.Met1417Ile
XM_017018202.1:c.2748G>T	XP_016873691.1:p.Met916Ile
XM_017018204.1:c.2139G>T	XP_016873693.1:p.Met713Ile
XM_024448668.1:c.2550G>T	XP_024304436.1:p.Met850Ile
XR_001747945.2:n.4323G>T
XR_001747946.2:n.4254G>T
XR_002957189.1:n.5904G>T
NM_000352.6:c.4182G>T MANE Select	NP_000343.2:p.Met1394Ile
NM_001287174.2:c.4185G>T	NP_001274103.1:p.Met1395Ile
NM_001351295.2:c.4248G>T	NP_001338224.1:p.Met1416Ile
NM_001351296.2:c.4182G>T	NP_001338225.1:p.Met1394Ile
NM_001351297.2:c.4179G>T	NP_001338226.1:p.Met1393Ile
NR_147094.2:n.4477G>T
NM_001287174.3:c.4185G>T	NP_001274103.1:p.Met1395Ile