Canonical Allele Identifier: CA368034520

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 2996823
• ClinVar RCV Id: RCV003858958
• MyVariant Identifiers: chr7:g.87060748C>G (hg19) ; chr7:g.87431432C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87431432C>G , CM000669.2:g.87431432C>G	GRCh38
NC_000007.13:g.87060748C>G , CM000669.1:g.87060748C>G	GRCh37
NC_000007.12:g.86898684C>G	NCBI36
NG_007118.1:g.54001G>C
NG_007118.2:g.54001G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000359206.8:c.1865G>C	ENSP00000352135.3:p.Gly622Ala
ENST00000643670.1:c.1881G>C	ENSP00000496629.1:n.1881G>C
ENST00000644106.1:c.*1402G>C	ENSP00000493477.1:n.*1402G>C
ENST00000649586.2:c.1865G>C MANE Select	ENSP00000496956.2:p.Gly622Ala
ENST00000265723.8:c.1865G>C	ENSP00000265723.4:p.Gly622Ala
ENST00000358400.7:c.1865G>C	ENSP00000351172.3:p.Gly622Ala
ENST00000359206.7:c.1865G>C	ENSP00000352135.3:p.Gly622Ala
ENST00000453593.5:c.1865G>C	ENSP00000392983.1:p.Gly622Ala
ENST00000469770.1:n.69G>C
NM_000443.3:c.1865G>C	NP_000434.1:p.Gly622Ala
NM_018849.2:c.1865G>C	NP_061337.1:p.Gly622Ala
NM_018850.2:c.1865G>C	NP_061338.1:p.Gly622Ala
XM_011516308.1:c.1865G>C	XP_011514610.1:p.Gly622Ala
XM_011516309.1:c.1865G>C	XP_011514611.1:p.Gly622Ala
XM_011516310.1:c.1865G>C	XP_011514612.1:p.Gly622Ala
XM_011516311.1:c.1865G>C	XP_011514613.1:p.Gly622Ala
XM_011516312.1:c.1865G>C	XP_011514614.1:p.Gly622Ala
XM_011516313.1:c.1865G>C	XP_011514615.1:p.Gly622Ala
XM_011516314.1:c.1886G>C	XP_011514616.1:p.Gly629Ala
XM_011516315.1:c.1205G>C	XP_011514617.1:p.Gly402Ala
XR_927478.1:n.1961G>C
XM_011516308.3:c.2135G>C	XP_011514610.3:p.Gly712Ala
XM_011516309.3:c.2135G>C	XP_011514611.3:p.Gly712Ala
XM_011516310.3:c.2135G>C	XP_011514612.3:p.Gly712Ala
XM_011516311.3:c.2135G>C	XP_011514613.3:p.Gly712Ala
XM_011516312.3:c.2135G>C	XP_011514614.3:p.Gly712Ala
XM_011516313.3:c.2135G>C	XP_011514615.2:p.Gly712Ala
XM_011516315.3:c.1205G>C	XP_011514617.2:p.Gly402Ala
XM_017012323.2:c.1865G>C	XP_016867812.1:p.Gly622Ala
XR_001744809.2:n.2636G>C
XR_001744810.2:n.2631G>C
NM_000443.4:c.1865G>C MANE Select	NP_000434.1:p.Gly622Ala
NM_018849.3:c.1865G>C	NP_061337.1:p.Gly622Ala
NM_018850.3:c.1865G>C	NP_061338.1:p.Gly622Ala