Canonical Allele Identifier: CA4326715

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 497964
• ClinVar RCV Id: RCV000591229
• dbSNP Id: rs752080958
• ExAC: 7:87031588 C / T
• gnomAD v2: 7-87031588-C-T
• gnomAD v4: 7-87402272-C-T
• MyVariant Identifiers: chr7:g.87031588C>T (hg19) ; chr7:g.87402272C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402272C>T , CM000669.2:g.87402272C>T	GRCh38
NC_000007.13:g.87031588C>T , CM000669.1:g.87031588C>T	GRCh37
NC_000007.12:g.86869524C>T	NCBI36
NG_007118.1:g.83161G>A
NG_007118.2:g.83161G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000359206.8:c.3664G>A	ENSP00000352135.3:p.Glu1222Lys
ENST00000649586.2:c.3664G>A MANE Select	ENSP00000496956.2:p.Glu1222Lys
ENST00000265723.8:c.3685G>A	ENSP00000265723.4:p.Glu1229Lys
ENST00000358400.7:c.3523G>A	ENSP00000351172.3:p.Glu1175Lys
ENST00000359206.7:c.3664G>A	ENSP00000352135.3:p.Glu1222Lys
ENST00000440025.1:c.98G>A
ENST00000453593.5:c.3523G>A	ENSP00000392983.1:p.Glu1175Lys
ENST00000467983.1:n.276G>A
NM_000443.3:c.3664G>A	NP_000434.1:p.Glu1222Lys
NM_018849.2:c.3685G>A	NP_061337.1:p.Glu1229Lys
NM_018850.2:c.3523G>A	NP_061338.1:p.Glu1175Lys
XM_011516308.1:c.3685G>A	XP_011514610.1:p.Glu1229Lys
XM_011516309.1:c.3664G>A	XP_011514611.1:p.Glu1222Lys
XM_011516310.1:c.3580G>A	XP_011514612.1:p.Glu1194Lys
XM_011516311.1:c.3556G>A	XP_011514613.1:p.Glu1186Lys
XM_011516312.1:c.3544G>A	XP_011514614.1:p.Glu1182Lys
XM_011516313.1:c.3523G>A	XP_011514615.1:p.Glu1175Lys
XM_011516314.1:c.3706G>A	XP_011514616.1:p.Glu1236Lys
XM_011516315.1:c.3025G>A	XP_011514617.1:p.Glu1009Lys
XM_011516308.3:c.3955G>A	XP_011514610.3:p.Glu1319Lys
XM_011516309.3:c.3934G>A	XP_011514611.3:p.Glu1312Lys
XM_011516310.3:c.3850G>A	XP_011514612.3:p.Glu1284Lys
XM_011516311.3:c.3826G>A	XP_011514613.3:p.Glu1276Lys
XM_011516312.3:c.3814G>A	XP_011514614.3:p.Glu1272Lys
XM_011516313.3:c.3793G>A	XP_011514615.2:p.Glu1265Lys
XM_011516315.3:c.3025G>A	XP_011514617.2:p.Glu1009Lys
XM_017012323.2:c.3685G>A	XP_016867812.1:p.Glu1229Lys
XR_001744809.2:n.4193G>A
NM_000443.4:c.3664G>A MANE Select	NP_000434.1:p.Glu1222Lys
NM_018849.3:c.3685G>A	NP_061337.1:p.Glu1229Lys
NM_018850.3:c.3523G>A	NP_061338.1:p.Glu1175Lys