Canonical Allele Identifier: CA379788280

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395905-C-A
• MyVariant Identifiers: chr11:g.17417452C>A (hg19) ; chr11:g.17395905C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395905C>A , CM000673.2:g.17395905C>A	GRCh38
NC_000011.9:g.17417452C>A , CM000673.1:g.17417452C>A	GRCh37
NC_000011.8:g.17374028C>A	NCBI36
NG_008867.1:g.85998G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3746G>T
ENST00000528374.2:c.736G>T
ENST00000529967.6:n.2484G>T
ENST00000532220.2:n.3378G>T
ENST00000642611.2:n.5345G>T
ENST00000644057.2:n.588G>T
ENST00000645004.2:n.1644G>T
ENST00000682051.1:n.4307G>T
ENST00000682110.1:n.4360G>T
ENST00000682140.1:c.4011G>T	ENSP00000507829.1:p.Gln1337His
ENST00000682185.1:n.5450G>T
ENST00000682204.1:c.*2283G>T	ENSP00000507094.1:n.*2283G>T
ENST00000682215.1:n.4727G>T
ENST00000682288.1:c.*2576G>T	ENSP00000507506.1:n.*2576G>T
ENST00000682442.1:n.4580G>T
ENST00000682528.1:n.4437G>T
ENST00000682673.1:n.4304G>T
ENST00000682805.1:n.4765G>T
ENST00000682965.1:c.*567G>T	ENSP00000508229.1:n.*567G>T
ENST00000683093.1:n.5444G>T
ENST00000683136.1:c.4028G>T	ENSP00000507768.1:p.Ser1343Ile
ENST00000683153.1:n.4402G>T
ENST00000683365.1:n.4462G>T
ENST00000683377.1:n.4360G>T
ENST00000683456.1:c.*1282G>T	ENSP00000508318.1:n.*1282G>T
ENST00000683522.1:n.4360G>T
ENST00000683562.1:c.*2314G>T	ENSP00000508265.1:n.*2314G>T
ENST00000683693.1:n.5792G>T
ENST00000683725.1:c.4145G>T	ENSP00000507496.1:p.Ser1382Ile
ENST00000684010.1:n.4355G>T
ENST00000684157.1:n.5345G>T
ENST00000684253.1:n.4263G>T
ENST00000684288.1:c.*2317G>T	ENSP00000507143.1:n.*2317G>T
ENST00000684313.1:n.3792G>T
ENST00000684332.1:n.4433G>T
ENST00000684371.1:n.4466G>T
ENST00000684404.1:n.5388G>T
ENST00000684442.1:n.4584G>T
ENST00000684555.1:c.*2357G>T	ENSP00000507705.1:n.*2357G>T
ENST00000684571.1:c.3986G>T	ENSP00000506935.1:p.Ser1329Ile
ENST00000684593.1:c.*3850G>T	ENSP00000507005.1:n.*3850G>T
ENST00000684711.1:c.*2541G>T	ENSP00000506841.1:n.*2541G>T
ENST00000302539.9:c.4148G>T	ENSP00000303960.4:p.Ser1383Ile
ENST00000389817.8:c.4145G>T MANE Select	ENSP00000374467.4:p.Ser1382Ile
ENST00000642271.1:c.4142G>T	ENSP00000493749.1:p.Ser1381Ile
ENST00000642579.1:c.2199G>T
ENST00000642611.1:n.5230G>T
ENST00000642902.1:c.3927G>T
ENST00000643260.1:c.4145G>T	ENSP00000494450.1:p.Ser1382Ile
ENST00000643562.1:c.*2267G>T	ENSP00000496124.1:n.*2267G>T
ENST00000643925.1:c.2785G>T
ENST00000644057.1:n.222G>T
ENST00000644484.1:c.*3531G>T	ENSP00000493558.1:n.*3531G>T
ENST00000644675.1:c.*2317G>T	ENSP00000494567.1:n.*2317G>T
ENST00000644757.1:c.*3202+359G>T	ENSP00000495085.1:n.*3202+359G>T
ENST00000644772.1:c.4211G>T	ENSP00000494321.1:p.Ser1404Ile
ENST00000645004.1:n.1838G>T
ENST00000645076.1:c.3344G>T
ENST00000645417.1:c.1333G>T
ENST00000645744.1:c.*3910G>T	ENSP00000494564.1:n.*3910G>T
ENST00000645760.1:c.4566G>T
ENST00000645884.1:c.*1428G>T	ENSP00000495516.1:n.*1428G>T
ENST00000646003.1:c.*2247G>T	ENSP00000495259.1:n.*2247G>T
ENST00000646207.1:c.*2982G>T	ENSP00000495025.1:n.*2982G>T
ENST00000646276.1:c.*3549G>T	ENSP00000496070.1:n.*3549G>T
ENST00000646592.1:c.3451G>T
ENST00000646902.1:c.4112G>T	ENSP00000494101.1:p.Ser1371Ile
ENST00000646993.1:c.*2687G>T	ENSP00000493720.1:n.*2687G>T
ENST00000647013.1:c.4151G>T	ENSP00000496741.1:n.4151G>T
ENST00000647015.1:c.3896G>T	ENSP00000495389.1:p.Ser1299Ile
ENST00000647086.1:c.*3731G>T	ENSP00000493677.1:n.*3731G>T
ENST00000647158.1:c.*2432G>T	ENSP00000495744.1:n.*2432G>T
ENST00000302539.8:c.4148G>T	ENSP00000303960.4:p.Ser1383Ile
ENST00000389817.7:c.4145G>T	ENSP00000374467.3:p.Ser1382Ile
ENST00000525022.1:n.11G>T
ENST00000526168.5:c.13G>T
NM_000352.4:c.4145G>T	NP_000343.2:p.Ser1382Ile
NM_001287174.1:c.4148G>T	NP_001274103.1:p.Ser1383Ile
XM_011520331.1:c.4145G>T	XP_011518633.1:p.Ser1382Ile
XM_011520332.1:c.4148G>T	XP_011518634.1:p.Ser1383Ile
XM_011520333.1:c.2645G>T	XP_011518635.1:p.Ser882Ile
XR_930890.1:n.4211G>T
NM_001351295.1:c.4211G>T	NP_001338224.1:p.Ser1404Ile
NM_001351296.1:c.4145G>T	NP_001338225.1:p.Ser1382Ile
NM_001351297.1:c.4142G>T	NP_001338226.1:p.Ser1381Ile
NR_147094.1:n.4440G>T
XM_017018197.2:c.4214G>T	XP_016873686.1:p.Ser1405Ile
XM_017018199.1:c.4211G>T	XP_016873688.1:p.Ser1404Ile
XM_017018201.2:c.4214G>T	XP_016873690.1:p.Ser1405Ile
XM_017018202.1:c.2711G>T	XP_016873691.1:p.Ser904Ile
XM_017018204.1:c.2102G>T	XP_016873693.1:p.Ser701Ile
XM_024448668.1:c.2513G>T	XP_024304436.1:p.Ser838Ile
XR_001747945.2:n.4286G>T
XR_001747946.2:n.4217G>T
XR_002957189.1:n.5867G>T
NM_000352.6:c.4145G>T MANE Select	NP_000343.2:p.Ser1382Ile
NM_001287174.2:c.4148G>T	NP_001274103.1:p.Ser1383Ile
NM_001351295.2:c.4211G>T	NP_001338224.1:p.Ser1404Ile
NM_001351296.2:c.4145G>T	NP_001338225.1:p.Ser1382Ile
NM_001351297.2:c.4142G>T	NP_001338226.1:p.Ser1381Ile
NR_147094.2:n.4440G>T
NM_001287174.3:c.4148G>T	NP_001274103.1:p.Ser1383Ile