Canonical Allele Identifier: CA4326994

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 2956828
• ClinVar RCV Id: RCV003816539
• dbSNP Id: rs776331600
• ExAC: 7:87046851 A / C
• gnomAD v2: 7-87046851-A-C
• gnomAD v3: 7-87417535-A-C
• gnomAD v4: 7-87417535-A-C
• MyVariant Identifiers: chr7:g.87046851A>C (hg19) ; chr7:g.87417535A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87417535A>C , CM000669.2:g.87417535A>C	GRCh38
NC_000007.13:g.87046851A>C , CM000669.1:g.87046851A>C	GRCh37
NC_000007.12:g.86884787A>C	NCBI36
NG_007118.1:g.67898T>G
NG_007118.2:g.67898T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2479-20T>G	ENSP00000352135.3:n.2479-20T>G
ENST00000649586.2:c.2479-20T>G MANE Select	ENSP00000496956.2:n.2479-20T>G
ENST00000265723.8:c.2479-20T>G	ENSP00000265723.4:n.2479-20T>G
ENST00000358400.7:c.2479-20T>G	ENSP00000351172.3:n.2479-20T>G
ENST00000359206.7:c.2479-20T>G	ENSP00000352135.3:n.2479-20T>G
ENST00000453593.5:c.2479-20T>G	ENSP00000392983.1:n.2479-20T>G
NM_000443.3:c.2479-20T>G	NP_000434.1:n.2479-20T>G
NM_018849.2:c.2479-20T>G	NP_061337.1:n.2479-20T>G
NM_018850.2:c.2479-20T>G	NP_061338.1:n.2479-20T>G
XM_011516308.1:c.2479-20T>G	XP_011514610.1:n.2479-20T>G
XM_011516309.1:c.2479-20T>G	XP_011514611.1:n.2479-20T>G
XM_011516310.1:c.2374-20T>G	XP_011514612.1:n.2374-20T>G
XM_011516311.1:c.2479-20T>G	XP_011514613.1:n.2479-20T>G
XM_011516312.1:c.2479-20T>G	XP_011514614.1:n.2479-20T>G
XM_011516313.1:c.2479-20T>G	XP_011514615.1:n.2479-20T>G
XM_011516314.1:c.2500-20T>G	XP_011514616.1:n.2500-20T>G
XM_011516315.1:c.1819-20T>G	XP_011514617.1:n.1819-20T>G
XR_927478.1:n.2575-20T>G
XM_011516308.3:c.2749-20T>G	XP_011514610.3:n.2749-20T>G
XM_011516309.3:c.2749-20T>G	XP_011514611.3:n.2749-20T>G
XM_011516310.3:c.2644-20T>G	XP_011514612.3:n.2644-20T>G
XM_011516311.3:c.2749-20T>G	XP_011514613.3:n.2749-20T>G
XM_011516312.3:c.2749-20T>G	XP_011514614.3:n.2749-20T>G
XM_011516313.3:c.2749-20T>G	XP_011514615.2:n.2749-20T>G
XM_011516315.3:c.1819-20T>G	XP_011514617.2:n.1819-20T>G
XM_017012323.2:c.2479-20T>G	XP_016867812.1:n.2479-20T>G
XR_001744809.2:n.3250-20T>G
NM_000443.4:c.2479-20T>G MANE Select	NP_000434.1:n.2479-20T>G
NM_018849.3:c.2479-20T>G	NP_061337.1:n.2479-20T>G
NM_018850.3:c.2479-20T>G	NP_061338.1:n.2479-20T>G