Canonical Allele Identifier: CA576123033

Gene: ABCB1

Linked Data

• dbSNP Id: rs1247315620
• gnomAD v2: 7-87214752-G-T
• gnomAD v3: 7-87585436-G-T
• gnomAD v4: 7-87585436-G-T
• COSMIC: COSN8044643
• MyVariant Identifiers: chr7:g.87214752G>T (hg19) ; chr7:g.87585436G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87585436G>T , CM000669.2:g.87585436G>T	GRCh38
NC_000007.13:g.87214752G>T , CM000669.1:g.87214752G>T	GRCh37
NC_000007.12:g.87052688G>T	NCBI36
NG_011513.1:g.132813C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.286+76C>A	ENSP00000265724.3:n.286+76C>A
ENST00000622132.5:c.286+76C>A MANE Select	ENSP00000478255.1:n.286+76C>A
ENST00000265724.7:c.286+76C>A	ENSP00000265724.3:n.286+76C>A
ENST00000543898.5:c.286+76C>A	ENSP00000444095.1:n.286+76C>A
ENST00000622132.4:c.286+76C>A	ENSP00000478255.1:n.286+76C>A
NM_000927.4:c.286+76C>A	NP_000918.2:n.286+76C>A
NM_001348944.1:c.286+76C>A	NP_001335873.1:n.286+76C>A
NM_001348945.1:c.496+76C>A	NP_001335874.1:n.496+76C>A
NM_001348946.1:c.286+76C>A	NP_001335875.1:n.286+76C>A
NM_001348946.2:c.286+76C>A MANE Select	NP_001335875.1:n.286+76C>A
NM_000927.5:c.286+76C>A	NP_000918.2:n.286+76C>A
NM_001348944.2:c.286+76C>A	NP_001335873.1:n.286+76C>A
NM_001348945.2:c.496+76C>A	NP_001335874.1:n.496+76C>A