Canonical Allele Identifier: CA368056822

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031536G>A (hg19) ; chr7:g.87402220G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402220G>A , CM000669.2:g.87402220G>A	GRCh38
NC_000007.13:g.87031536G>A , CM000669.1:g.87031536G>A	GRCh37
NC_000007.12:g.86869472G>A	NCBI36
NG_007118.1:g.83213C>T
NG_007118.2:g.83213C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3716C>T	ENSP00000352135.3:p.Ala1239Val
ENST00000649586.2:c.3716C>T MANE Select	ENSP00000496956.2:p.Ala1239Val
ENST00000265723.8:c.3737C>T	ENSP00000265723.4:p.Ala1246Val
ENST00000358400.7:c.3575C>T	ENSP00000351172.3:p.Ala1192Val
ENST00000359206.7:c.3716C>T	ENSP00000352135.3:p.Ala1239Val
ENST00000440025.1:c.150C>T
ENST00000453593.5:c.3575C>T	ENSP00000392983.1:p.Ala1192Val
ENST00000467983.1:n.328C>T
NM_000443.3:c.3716C>T	NP_000434.1:p.Ala1239Val
NM_018849.2:c.3737C>T	NP_061337.1:p.Ala1246Val
NM_018850.2:c.3575C>T	NP_061338.1:p.Ala1192Val
XM_011516308.1:c.3737C>T	XP_011514610.1:p.Ala1246Val
XM_011516309.1:c.3716C>T	XP_011514611.1:p.Ala1239Val
XM_011516310.1:c.3632C>T	XP_011514612.1:p.Ala1211Val
XM_011516311.1:c.3608C>T	XP_011514613.1:p.Ala1203Val
XM_011516312.1:c.3596C>T	XP_011514614.1:p.Ala1199Val
XM_011516313.1:c.3575C>T	XP_011514615.1:p.Ala1192Val
XM_011516314.1:c.3758C>T	XP_011514616.1:p.Ala1253Val
XM_011516315.1:c.3077C>T	XP_011514617.1:p.Ala1026Val
XM_011516308.3:c.4007C>T	XP_011514610.3:p.Ala1336Val
XM_011516309.3:c.3986C>T	XP_011514611.3:p.Ala1329Val
XM_011516310.3:c.3902C>T	XP_011514612.3:p.Ala1301Val
XM_011516311.3:c.3878C>T	XP_011514613.3:p.Ala1293Val
XM_011516312.3:c.3866C>T	XP_011514614.3:p.Ala1289Val
XM_011516313.3:c.3845C>T	XP_011514615.2:p.Ala1282Val
XM_011516315.3:c.3077C>T	XP_011514617.2:p.Ala1026Val
XM_017012323.2:c.3737C>T	XP_016867812.1:p.Ala1246Val
XR_001744809.2:n.4245C>T
NM_000443.4:c.3716C>T MANE Select	NP_000434.1:p.Ala1239Val
NM_018849.3:c.3737C>T	NP_061337.1:p.Ala1246Val
NM_018850.3:c.3575C>T	NP_061338.1:p.Ala1192Val