Canonical Allele Identifier: CA368050294

Gene: ABCB1

Linked Data

• dbSNP Id: rs1815472252
• gnomAD v4: 7-87520852-A-G
• MyVariant Identifiers: chr7:g.87150168A>G (hg19) ; chr7:g.87520852A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87520852A>G , CM000669.2:g.87520852A>G	GRCh38
NC_000007.13:g.87150168A>G , CM000669.1:g.87150168A>G	GRCh37
NC_000007.12:g.86988104A>G	NCBI36
NG_011513.1:g.197397T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2710T>C	ENSP00000265724.3:p.Phe904Leu
ENST00000622132.5:c.2710T>C MANE Select	ENSP00000478255.1:p.Phe904Leu
ENST00000265724.7:c.2710T>C	ENSP00000265724.3:p.Phe904Leu
ENST00000483831.1:n.268T>C
ENST00000488737.6:n.352T>C
ENST00000496821.5:n.338T>C
ENST00000543898.5:c.2518T>C	ENSP00000444095.1:p.Phe840Leu
ENST00000622132.4:c.2710T>C	ENSP00000478255.1:p.Phe904Leu
NM_000927.4:c.2710T>C	NP_000918.2:p.Phe904Leu
NM_001348944.1:c.2710T>C	NP_001335873.1:p.Phe904Leu
NM_001348945.1:c.2920T>C	NP_001335874.1:p.Phe974Leu
NM_001348946.1:c.2710T>C	NP_001335875.1:p.Phe904Leu
NM_001348946.2:c.2710T>C MANE Select	NP_001335875.1:p.Phe904Leu
NM_000927.5:c.2710T>C	NP_000918.2:p.Phe904Leu
NM_001348944.2:c.2710T>C	NP_001335873.1:p.Phe904Leu
NM_001348945.2:c.2920T>C	NP_001335874.1:p.Phe974Leu