Canonical Allele Identifier: CA368060517

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87041242A>G (hg19) ; chr7:g.87411926A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87411926A>G , CM000669.2:g.87411926A>G	GRCh38
NC_000007.13:g.87041242A>G , CM000669.1:g.87041242A>G	GRCh37
NC_000007.12:g.86879178A>G	NCBI36
NG_007118.1:g.73507T>C
NG_007118.2:g.73507T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2891T>C	ENSP00000352135.3:p.Val964Ala
ENST00000649586.2:c.2891T>C MANE Select	ENSP00000496956.2:p.Val964Ala
ENST00000265723.8:c.2891T>C	ENSP00000265723.4:p.Val964Ala
ENST00000358400.7:c.2783+1691T>C	ENSP00000351172.3:n.2783+1691T>C
ENST00000359206.7:c.2891T>C	ENSP00000352135.3:p.Val964Ala
ENST00000453593.5:c.2783+1691T>C	ENSP00000392983.1:n.2783+1691T>C
NM_000443.3:c.2891T>C	NP_000434.1:p.Val964Ala
NM_018849.2:c.2891T>C	NP_061337.1:p.Val964Ala
NM_018850.2:c.2783+1691T>C	NP_061338.1:n.2783+1691T>C
XM_011516308.1:c.2891T>C	XP_011514610.1:p.Val964Ala
XM_011516309.1:c.2891T>C	XP_011514611.1:p.Val964Ala
XM_011516310.1:c.2786T>C	XP_011514612.1:p.Val929Ala
XM_011516311.1:c.2784-22T>C	XP_011514613.1:n.2784-22T>C
XM_011516312.1:c.2783+1691T>C	XP_011514614.1:n.2783+1691T>C
XM_011516313.1:c.2783+1691T>C	XP_011514615.1:n.2783+1691T>C
XM_011516314.1:c.2912T>C	XP_011514616.1:p.Val971Ala
XM_011516315.1:c.2231T>C	XP_011514617.1:p.Val744Ala
XR_927478.1:n.2779-2534T>C
XM_011516308.3:c.3161T>C	XP_011514610.3:p.Val1054Ala
XM_011516309.3:c.3161T>C	XP_011514611.3:p.Val1054Ala
XM_011516310.3:c.3056T>C	XP_011514612.3:p.Val1019Ala
XM_011516311.3:c.3054-22T>C	XP_011514613.3:n.3054-22T>C
XM_011516312.3:c.3053+1691T>C	XP_011514614.3:n.3053+1691T>C
XM_011516313.3:c.3053+1691T>C	XP_011514615.2:n.3053+1691T>C
XM_011516315.3:c.2231T>C	XP_011514617.2:p.Val744Ala
XM_017012323.2:c.2891T>C	XP_016867812.1:p.Val964Ala
XR_001744809.2:n.3454-2534T>C
NM_000443.4:c.2891T>C MANE Select	NP_000434.1:p.Val964Ala
NM_018849.3:c.2891T>C	NP_061337.1:p.Val964Ala
NM_018850.3:c.2783+1691T>C	NP_061338.1:n.2783+1691T>C