Canonical Allele Identifier: CA162082669

Gene: ABCB4

Linked Data

• dbSNP Id: rs200949614
• gnomAD v2: 7-87053242-T-A
• gnomAD v3: 7-87423926-T-A
• gnomAD v4: 7-87423926-T-A
• MyVariant Identifiers: chr7:g.87053242T>A (hg19) ; chr7:g.87423926T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87423926T>A , CM000669.2:g.87423926T>A	GRCh38
NC_000007.13:g.87053242T>A , CM000669.1:g.87053242T>A	GRCh37
NC_000007.12:g.86891178T>A	NCBI36
NG_007118.1:g.61507A>T
NG_007118.2:g.61507A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000359206.8:c.2191A>T	ENSP00000352135.3:p.Ile731Leu
ENST00000643670.1:c.2207A>T	ENSP00000496629.1:n.2207A>T
ENST00000649586.2:c.2191A>T MANE Select	ENSP00000496956.2:p.Ile731Leu
ENST00000265723.8:c.2191A>T	ENSP00000265723.4:p.Ile731Leu
ENST00000358400.7:c.2191A>T	ENSP00000351172.3:p.Ile731Leu
ENST00000359206.7:c.2191A>T	ENSP00000352135.3:p.Ile731Leu
ENST00000453593.5:c.2191A>T	ENSP00000392983.1:p.Ile731Leu
ENST00000469770.1:n.395A>T
NM_000443.3:c.2191A>T	NP_000434.1:p.Ile731Leu
NM_018849.2:c.2191A>T	NP_061337.1:p.Ile731Leu
NM_018850.2:c.2191A>T	NP_061338.1:p.Ile731Leu
XM_011516308.1:c.2191A>T	XP_011514610.1:p.Ile731Leu
XM_011516309.1:c.2191A>T	XP_011514611.1:p.Ile731Leu
XM_011516310.1:c.2191A>T	XP_011514612.1:p.Ile731Leu
XM_011516311.1:c.2191A>T	XP_011514613.1:p.Ile731Leu
XM_011516312.1:c.2191A>T	XP_011514614.1:p.Ile731Leu
XM_011516313.1:c.2191A>T	XP_011514615.1:p.Ile731Leu
XM_011516314.1:c.2212A>T	XP_011514616.1:p.Ile738Leu
XM_011516315.1:c.1531A>T	XP_011514617.1:p.Ile511Leu
XR_927478.1:n.2287A>T
XM_011516308.3:c.2461A>T	XP_011514610.3:p.Ile821Leu
XM_011516309.3:c.2461A>T	XP_011514611.3:p.Ile821Leu
XM_011516310.3:c.2461A>T	XP_011514612.3:p.Ile821Leu
XM_011516311.3:c.2461A>T	XP_011514613.3:p.Ile821Leu
XM_011516312.3:c.2461A>T	XP_011514614.3:p.Ile821Leu
XM_011516313.3:c.2461A>T	XP_011514615.2:p.Ile821Leu
XM_011516315.3:c.1531A>T	XP_011514617.2:p.Ile511Leu
XM_017012323.2:c.2191A>T	XP_016867812.1:p.Ile731Leu
XR_001744809.2:n.2962A>T
XR_001744810.2:n.2957A>T
NM_000443.4:c.2191A>T MANE Select	NP_000434.1:p.Ile731Leu
NM_018849.3:c.2191A>T	NP_061337.1:p.Ile731Leu
NM_018850.3:c.2191A>T	NP_061338.1:p.Ile731Leu