Canonical Allele Identifier: CA368061573

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87046794A>T (hg19) ; chr7:g.87417478A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87417478A>T , CM000669.2:g.87417478A>T	GRCh38
NC_000007.13:g.87046794A>T , CM000669.1:g.87046794A>T	GRCh37
NC_000007.12:g.86884730A>T	NCBI36
NG_007118.1:g.67955T>A
NG_007118.2:g.67955T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2516T>A	ENSP00000352135.3:p.Ile839Lys
ENST00000649586.2:c.2516T>A MANE Select	ENSP00000496956.2:p.Ile839Lys
ENST00000265723.8:c.2516T>A	ENSP00000265723.4:p.Ile839Lys
ENST00000358400.7:c.2516T>A	ENSP00000351172.3:p.Ile839Lys
ENST00000359206.7:c.2516T>A	ENSP00000352135.3:p.Ile839Lys
ENST00000453593.5:c.2516T>A	ENSP00000392983.1:p.Ile839Lys
NM_000443.3:c.2516T>A	NP_000434.1:p.Ile839Lys
NM_018849.2:c.2516T>A	NP_061337.1:p.Ile839Lys
NM_018850.2:c.2516T>A	NP_061338.1:p.Ile839Lys
XM_011516308.1:c.2516T>A	XP_011514610.1:p.Ile839Lys
XM_011516309.1:c.2516T>A	XP_011514611.1:p.Ile839Lys
XM_011516310.1:c.2411T>A	XP_011514612.1:p.Ile804Lys
XM_011516311.1:c.2516T>A	XP_011514613.1:p.Ile839Lys
XM_011516312.1:c.2516T>A	XP_011514614.1:p.Ile839Lys
XM_011516313.1:c.2516T>A	XP_011514615.1:p.Ile839Lys
XM_011516314.1:c.2537T>A	XP_011514616.1:p.Ile846Lys
XM_011516315.1:c.1856T>A	XP_011514617.1:p.Ile619Lys
XR_927478.1:n.2612T>A
XM_011516308.3:c.2786T>A	XP_011514610.3:p.Ile929Lys
XM_011516309.3:c.2786T>A	XP_011514611.3:p.Ile929Lys
XM_011516310.3:c.2681T>A	XP_011514612.3:p.Ile894Lys
XM_011516311.3:c.2786T>A	XP_011514613.3:p.Ile929Lys
XM_011516312.3:c.2786T>A	XP_011514614.3:p.Ile929Lys
XM_011516313.3:c.2786T>A	XP_011514615.2:p.Ile929Lys
XM_011516315.3:c.1856T>A	XP_011514617.2:p.Ile619Lys
XM_017012323.2:c.2516T>A	XP_016867812.1:p.Ile839Lys
XR_001744809.2:n.3287T>A
NM_000443.4:c.2516T>A MANE Select	NP_000434.1:p.Ile839Lys
NM_018849.3:c.2516T>A	NP_061337.1:p.Ile839Lys
NM_018850.3:c.2516T>A	NP_061338.1:p.Ile839Lys