Canonical Allele Identifier: CA456349684

Gene: ABCB1

Linked Data

• dbSNP Id: rs1327407479
• gnomAD v2: 7-87144738-A-G
• gnomAD v4: 7-87515422-A-G
• MyVariant Identifiers: chr7:g.87144738A>G (hg19) ; chr7:g.87515422A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87515422A>G , CM000669.2:g.87515422A>G	GRCh38
NC_000007.13:g.87144738A>G , CM000669.1:g.87144738A>G	GRCh37
NC_000007.12:g.86982674A>G	NCBI36
NG_011513.1:g.202827T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.3091T>C	ENSP00000265724.3:p.Leu1031=
ENST00000622132.5:c.3091T>C MANE Select	ENSP00000478255.1:p.Leu1031=
ENST00000265724.7:c.3091T>C	ENSP00000265724.3:p.Leu1031=
ENST00000475929.5:n.247T>C
ENST00000488737.6:n.733T>C
ENST00000496821.5:n.719T>C
ENST00000543898.5:c.2899T>C	ENSP00000444095.1:p.Leu967=
ENST00000622132.4:c.3091T>C	ENSP00000478255.1:p.Leu1031=
NM_000927.4:c.3091T>C	NP_000918.2:p.Leu1031=
NM_001348944.1:c.3091T>C	NP_001335873.1:p.Leu1031=
NM_001348945.1:c.3301T>C	NP_001335874.1:p.Leu1101=
NM_001348946.1:c.3091T>C	NP_001335875.1:p.Leu1031=
NM_001348946.2:c.3091T>C MANE Select	NP_001335875.1:p.Leu1031=
NM_000927.5:c.3091T>C	NP_000918.2:p.Leu1031=
NM_001348944.2:c.3091T>C	NP_001335873.1:p.Leu1031=
NM_001348945.2:c.3301T>C	NP_001335874.1:p.Leu1101=