Canonical Allele Identifier: CA4327099

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 288451
• ClinVar RCV Id: RCV000399467
• dbSNP Id: rs773539504
• ExAC: 7:87053217 C / T
• gnomAD v2: 7-87053217-C-T
• gnomAD v3: 7-87423901-C-T
• gnomAD v4: 7-87423901-C-T
• MyVariant Identifiers: chr7:g.87053217C>T (hg19) ; chr7:g.87423901C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87423901C>T , CM000669.2:g.87423901C>T	GRCh38
NC_000007.13:g.87053217C>T , CM000669.1:g.87053217C>T	GRCh37
NC_000007.12:g.86891153C>T	NCBI36
NG_007118.1:g.61532G>A
NG_007118.2:g.61532G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000359206.8:c.2211+5G>A	ENSP00000352135.3:n.2211+5G>A
ENST00000643670.1:c.2232G>A	ENSP00000496629.1:n.2232G>A
ENST00000649586.2:c.2211+5G>A MANE Select	ENSP00000496956.2:n.2211+5G>A
ENST00000265723.8:c.2211+5G>A	ENSP00000265723.4:n.2211+5G>A
ENST00000358400.7:c.2211+5G>A	ENSP00000351172.3:n.2211+5G>A
ENST00000359206.7:c.2211+5G>A	ENSP00000352135.3:n.2211+5G>A
ENST00000453593.5:c.2211+5G>A	ENSP00000392983.1:n.2211+5G>A
ENST00000469770.1:n.420G>A
NM_000443.3:c.2211+5G>A	NP_000434.1:n.2211+5G>A
NM_018849.2:c.2211+5G>A	NP_061337.1:n.2211+5G>A
NM_018850.2:c.2211+5G>A	NP_061338.1:n.2211+5G>A
XM_011516308.1:c.2211+5G>A	XP_011514610.1:n.2211+5G>A
XM_011516309.1:c.2211+5G>A	XP_011514611.1:n.2211+5G>A
XM_011516310.1:c.2211+5G>A	XP_011514612.1:n.2211+5G>A
XM_011516311.1:c.2211+5G>A	XP_011514613.1:n.2211+5G>A
XM_011516312.1:c.2211+5G>A	XP_011514614.1:n.2211+5G>A
XM_011516313.1:c.2211+5G>A	XP_011514615.1:n.2211+5G>A
XM_011516314.1:c.2232+5G>A	XP_011514616.1:n.2232+5G>A
XM_011516315.1:c.1551+5G>A	XP_011514617.1:n.1551+5G>A
XR_927478.1:n.2307+5G>A
XM_011516308.3:c.2481+5G>A	XP_011514610.3:n.2481+5G>A
XM_011516309.3:c.2481+5G>A	XP_011514611.3:n.2481+5G>A
XM_011516310.3:c.2481+5G>A	XP_011514612.3:n.2481+5G>A
XM_011516311.3:c.2481+5G>A	XP_011514613.3:n.2481+5G>A
XM_011516312.3:c.2481+5G>A	XP_011514614.3:n.2481+5G>A
XM_011516313.3:c.2481+5G>A	XP_011514615.2:n.2481+5G>A
XM_011516315.3:c.1551+5G>A	XP_011514617.2:n.1551+5G>A
XM_017012323.2:c.2211+5G>A	XP_016867812.1:n.2211+5G>A
XR_001744809.2:n.2982+5G>A
XR_001744810.2:n.2977+5G>A
NM_000443.4:c.2211+5G>A MANE Select	NP_000434.1:n.2211+5G>A
NM_018849.3:c.2211+5G>A	NP_061337.1:n.2211+5G>A
NM_018850.3:c.2211+5G>A	NP_061338.1:n.2211+5G>A