Canonical Allele Identifier: CA368063008

Gene: ABCB1

Linked Data

• dbSNP Id: rs1247179537
• gnomAD v2: 7-87179812-A-G
• MyVariant Identifiers: chr7:g.87179812A>G (hg19) ; chr7:g.87550496A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550496A>G , CM000669.2:g.87550496A>G	GRCh38
NC_000007.13:g.87179812A>G , CM000669.1:g.87179812A>G	GRCh37
NC_000007.12:g.87017748A>G	NCBI36
NG_011513.1:g.167753T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.1196T>C	ENSP00000265724.3:p.Phe399Ser
ENST00000622132.5:c.1196T>C MANE Select	ENSP00000478255.1:p.Phe399Ser
ENST00000265724.7:c.1196T>C	ENSP00000265724.3:p.Phe399Ser
ENST00000543898.5:c.1004T>C	ENSP00000444095.1:p.Phe335Ser
ENST00000622132.4:c.1196T>C	ENSP00000478255.1:p.Phe399Ser
NM_000927.4:c.1196T>C	NP_000918.2:p.Phe399Ser
NM_001348944.1:c.1196T>C	NP_001335873.1:p.Phe399Ser
NM_001348945.1:c.1406T>C	NP_001335874.1:p.Phe469Ser
NM_001348946.1:c.1196T>C	NP_001335875.1:p.Phe399Ser
NM_001348946.2:c.1196T>C MANE Select	NP_001335875.1:p.Phe399Ser
NM_000927.5:c.1196T>C	NP_000918.2:p.Phe399Ser
NM_001348944.2:c.1196T>C	NP_001335873.1:p.Phe399Ser
NM_001348945.2:c.1406T>C	NP_001335874.1:p.Phe469Ser