Canonical Allele Identifier: CA4326691

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 286700
• ClinVar RCV Id: RCV000373466
• dbSNP Id: rs768236469
• ExAC: 7:87031441 T / G
• gnomAD v2: 7-87031441-T-G
• gnomAD v3: 7-87402125-T-G
• gnomAD v4: 7-87402125-T-G
• MyVariant Identifiers: chr7:g.87031441T>G (hg19) ; chr7:g.87402125T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402125T>G , CM000669.2:g.87402125T>G	GRCh38
NC_000007.13:g.87031441T>G , CM000669.1:g.87031441T>G	GRCh37
NC_000007.12:g.86869377T>G	NCBI36
NG_007118.1:g.83308A>C
NG_007118.2:g.83308A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000359206.8:c.3811A>C	ENSP00000352135.3:p.Ser1271Arg
ENST00000649586.2:c.3811A>C MANE Select	ENSP00000496956.2:p.Ser1271Arg
ENST00000265723.8:c.3832A>C	ENSP00000265723.4:p.Ser1278Arg
ENST00000358400.7:c.3670A>C	ENSP00000351172.3:p.Ser1224Arg
ENST00000359206.7:c.3811A>C	ENSP00000352135.3:p.Ser1271Arg
ENST00000440025.1:c.241+4A>C
ENST00000453593.5:c.3670A>C	ENSP00000392983.1:p.Ser1224Arg
NM_000443.3:c.3811A>C	NP_000434.1:p.Ser1271Arg
NM_018849.2:c.3832A>C	NP_061337.1:p.Ser1278Arg
NM_018850.2:c.3670A>C	NP_061338.1:p.Ser1224Arg
XM_011516308.1:c.3832A>C	XP_011514610.1:p.Ser1278Arg
XM_011516309.1:c.3811A>C	XP_011514611.1:p.Ser1271Arg
XM_011516310.1:c.3727A>C	XP_011514612.1:p.Ser1243Arg
XM_011516311.1:c.3703A>C	XP_011514613.1:p.Ser1235Arg
XM_011516312.1:c.3691A>C	XP_011514614.1:p.Ser1231Arg
XM_011516313.1:c.3670A>C	XP_011514615.1:p.Ser1224Arg
XM_011516314.1:c.3853A>C	XP_011514616.1:p.Ser1285Arg
XM_011516315.1:c.3172A>C	XP_011514617.1:p.Ser1058Arg
XM_011516308.3:c.4098+4A>C	XP_011514610.3:n.4098+4A>C
XM_011516309.3:c.4077+4A>C	XP_011514611.3:n.4077+4A>C
XM_011516310.3:c.3993+4A>C	XP_011514612.3:n.3993+4A>C
XM_011516311.3:c.3969+4A>C	XP_011514613.3:n.3969+4A>C
XM_011516312.3:c.3957+4A>C	XP_011514614.3:n.3957+4A>C
XM_011516313.3:c.3940A>C	XP_011514615.2:p.Ser1314Arg
XM_011516315.3:c.3168+4A>C	XP_011514617.2:n.3168+4A>C
XM_017012323.2:c.3828+4A>C	XP_016867812.1:n.3828+4A>C
XR_001744809.2:n.4340A>C
NM_000443.4:c.3811A>C MANE Select	NP_000434.1:p.Ser1271Arg
NM_018849.3:c.3832A>C	NP_061337.1:p.Ser1278Arg
NM_018850.3:c.3670A>C	NP_061338.1:p.Ser1224Arg