Canonical Allele Identifier: CA368056756

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031509C>G (hg19) ; chr7:g.87402193C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402193C>G , CM000669.2:g.87402193C>G	GRCh38
NC_000007.13:g.87031509C>G , CM000669.1:g.87031509C>G	GRCh37
NC_000007.12:g.86869445C>G	NCBI36
NG_007118.1:g.83240G>C
NG_007118.2:g.83240G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3743G>C	ENSP00000352135.3:p.Gly1248Ala
ENST00000649586.2:c.3743G>C MANE Select	ENSP00000496956.2:p.Gly1248Ala
ENST00000265723.8:c.3764G>C	ENSP00000265723.4:p.Gly1255Ala
ENST00000358400.7:c.3602G>C	ENSP00000351172.3:p.Gly1201Ala
ENST00000359206.7:c.3743G>C	ENSP00000352135.3:p.Gly1248Ala
ENST00000440025.1:c.177G>C
ENST00000453593.5:c.3602G>C	ENSP00000392983.1:p.Gly1201Ala
ENST00000467983.1:n.355G>C
NM_000443.3:c.3743G>C	NP_000434.1:p.Gly1248Ala
NM_018849.2:c.3764G>C	NP_061337.1:p.Gly1255Ala
NM_018850.2:c.3602G>C	NP_061338.1:p.Gly1201Ala
XM_011516308.1:c.3764G>C	XP_011514610.1:p.Gly1255Ala
XM_011516309.1:c.3743G>C	XP_011514611.1:p.Gly1248Ala
XM_011516310.1:c.3659G>C	XP_011514612.1:p.Gly1220Ala
XM_011516311.1:c.3635G>C	XP_011514613.1:p.Gly1212Ala
XM_011516312.1:c.3623G>C	XP_011514614.1:p.Gly1208Ala
XM_011516313.1:c.3602G>C	XP_011514615.1:p.Gly1201Ala
XM_011516314.1:c.3785G>C	XP_011514616.1:p.Gly1262Ala
XM_011516315.1:c.3104G>C	XP_011514617.1:p.Gly1035Ala
XM_011516308.3:c.4034G>C	XP_011514610.3:p.Gly1345Ala
XM_011516309.3:c.4013G>C	XP_011514611.3:p.Gly1338Ala
XM_011516310.3:c.3929G>C	XP_011514612.3:p.Gly1310Ala
XM_011516311.3:c.3905G>C	XP_011514613.3:p.Gly1302Ala
XM_011516312.3:c.3893G>C	XP_011514614.3:p.Gly1298Ala
XM_011516313.3:c.3872G>C	XP_011514615.2:p.Gly1291Ala
XM_011516315.3:c.3104G>C	XP_011514617.2:p.Gly1035Ala
XM_017012323.2:c.3764G>C	XP_016867812.1:p.Gly1255Ala
XR_001744809.2:n.4272G>C
NM_000443.4:c.3743G>C MANE Select	NP_000434.1:p.Gly1248Ala
NM_018849.3:c.3764G>C	NP_061337.1:p.Gly1255Ala
NM_018850.3:c.3602G>C	NP_061338.1:p.Gly1201Ala