Canonical Allele Identifier: CA368061326

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 912034
• ClinVar RCV Id: RCV001164955 ; RCV001164954
• dbSNP Id: rs1809055658
• gnomAD v4: 7-87417403-A-G
• MyVariant Identifiers: chr7:g.87046719A>G (hg19) ; chr7:g.87417403A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87417403A>G , CM000669.2:g.87417403A>G	GRCh38
NC_000007.13:g.87046719A>G , CM000669.1:g.87046719A>G	GRCh37
NC_000007.12:g.86884655A>G	NCBI36
NG_007118.1:g.68030T>C
NG_007118.2:g.68030T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2591T>C	ENSP00000352135.3:p.Val864Ala
ENST00000649586.2:c.2591T>C MANE Select	ENSP00000496956.2:p.Val864Ala
ENST00000265723.8:c.2591T>C	ENSP00000265723.4:p.Val864Ala
ENST00000358400.7:c.2591T>C	ENSP00000351172.3:p.Val864Ala
ENST00000359206.7:c.2591T>C	ENSP00000352135.3:p.Val864Ala
ENST00000453593.5:c.2591T>C	ENSP00000392983.1:p.Val864Ala
NM_000443.3:c.2591T>C	NP_000434.1:p.Val864Ala
NM_018849.2:c.2591T>C	NP_061337.1:p.Val864Ala
NM_018850.2:c.2591T>C	NP_061338.1:p.Val864Ala
XM_011516308.1:c.2591T>C	XP_011514610.1:p.Val864Ala
XM_011516309.1:c.2591T>C	XP_011514611.1:p.Val864Ala
XM_011516310.1:c.2486T>C	XP_011514612.1:p.Val829Ala
XM_011516311.1:c.2591T>C	XP_011514613.1:p.Val864Ala
XM_011516312.1:c.2591T>C	XP_011514614.1:p.Val864Ala
XM_011516313.1:c.2591T>C	XP_011514615.1:p.Val864Ala
XM_011516314.1:c.2612T>C	XP_011514616.1:p.Val871Ala
XM_011516315.1:c.1931T>C	XP_011514617.1:p.Val644Ala
XR_927478.1:n.2687T>C
XM_011516308.3:c.2861T>C	XP_011514610.3:p.Val954Ala
XM_011516309.3:c.2861T>C	XP_011514611.3:p.Val954Ala
XM_011516310.3:c.2756T>C	XP_011514612.3:p.Val919Ala
XM_011516311.3:c.2861T>C	XP_011514613.3:p.Val954Ala
XM_011516312.3:c.2861T>C	XP_011514614.3:p.Val954Ala
XM_011516313.3:c.2861T>C	XP_011514615.2:p.Val954Ala
XM_011516315.3:c.1931T>C	XP_011514617.2:p.Val644Ala
XM_017012323.2:c.2591T>C	XP_016867812.1:p.Val864Ala
XR_001744809.2:n.3362T>C
NM_000443.4:c.2591T>C MANE Select	NP_000434.1:p.Val864Ala
NM_018849.3:c.2591T>C	NP_061337.1:p.Val864Ala
NM_018850.3:c.2591T>C	NP_061338.1:p.Val864Ala