Canonical Allele Identifier: CA368056769

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031514C>A (hg19) ; chr7:g.87402198C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402198C>A , CM000669.2:g.87402198C>A	GRCh38
NC_000007.13:g.87031514C>A , CM000669.1:g.87031514C>A	GRCh37
NC_000007.12:g.86869450C>A	NCBI36
NG_007118.1:g.83235G>T
NG_007118.2:g.83235G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3738G>T	ENSP00000352135.3:p.Gln1246His
ENST00000649586.2:c.3738G>T MANE Select	ENSP00000496956.2:p.Gln1246His
ENST00000265723.8:c.3759G>T	ENSP00000265723.4:p.Gln1253His
ENST00000358400.7:c.3597G>T	ENSP00000351172.3:p.Gln1199His
ENST00000359206.7:c.3738G>T	ENSP00000352135.3:p.Gln1246His
ENST00000440025.1:c.172G>T
ENST00000453593.5:c.3597G>T	ENSP00000392983.1:p.Gln1199His
ENST00000467983.1:n.350G>T
NM_000443.3:c.3738G>T	NP_000434.1:p.Gln1246His
NM_018849.2:c.3759G>T	NP_061337.1:p.Gln1253His
NM_018850.2:c.3597G>T	NP_061338.1:p.Gln1199His
XM_011516308.1:c.3759G>T	XP_011514610.1:p.Gln1253His
XM_011516309.1:c.3738G>T	XP_011514611.1:p.Gln1246His
XM_011516310.1:c.3654G>T	XP_011514612.1:p.Gln1218His
XM_011516311.1:c.3630G>T	XP_011514613.1:p.Gln1210His
XM_011516312.1:c.3618G>T	XP_011514614.1:p.Gln1206His
XM_011516313.1:c.3597G>T	XP_011514615.1:p.Gln1199His
XM_011516314.1:c.3780G>T	XP_011514616.1:p.Gln1260His
XM_011516315.1:c.3099G>T	XP_011514617.1:p.Gln1033His
XM_011516308.3:c.4029G>T	XP_011514610.3:p.Gln1343His
XM_011516309.3:c.4008G>T	XP_011514611.3:p.Gln1336His
XM_011516310.3:c.3924G>T	XP_011514612.3:p.Gln1308His
XM_011516311.3:c.3900G>T	XP_011514613.3:p.Gln1300His
XM_011516312.3:c.3888G>T	XP_011514614.3:p.Gln1296His
XM_011516313.3:c.3867G>T	XP_011514615.2:p.Gln1289His
XM_011516315.3:c.3099G>T	XP_011514617.2:p.Gln1033His
XM_017012323.2:c.3759G>T	XP_016867812.1:p.Gln1253His
XR_001744809.2:n.4267G>T
NM_000443.4:c.3738G>T MANE Select	NP_000434.1:p.Gln1246His
NM_018849.3:c.3759G>T	NP_061337.1:p.Gln1253His
NM_018850.3:c.3597G>T	NP_061338.1:p.Gln1199His