Canonical Allele Identifier: CA162474185

Gene: ABCB1

Linked Data

• dbSNP Id: rs916604257
• gnomAD v4: 7-87599990-G-C
• MyVariant Identifiers: chr7:g.87229306G>C (hg19) ; chr7:g.87599990G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87599990G>C , CM000669.2:g.87599990G>C	GRCh38
NC_000007.13:g.87229306G>C , CM000669.1:g.87229306G>C	GRCh37
NC_000007.12:g.87067242G>C	NCBI36
NG_011513.1:g.118259C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.68+127C>G	ENSP00000265724.3:n.68+127C>G
ENST00000622132.5:c.68+127C>G MANE Select	ENSP00000478255.1:n.68+127C>G
ENST00000265724.7:c.68+127C>G	ENSP00000265724.3:n.68+127C>G
ENST00000416177.1:c.68+127C>G	ENSP00000399419.1:n.68+127C>G
ENST00000543898.5:c.68+127C>G	ENSP00000444095.1:n.68+127C>G
ENST00000622132.4:c.68+127C>G	ENSP00000478255.1:n.68+127C>G
NM_000927.4:c.68+127C>G	NP_000918.2:n.68+127C>G
NM_001348944.1:c.68+127C>G	NP_001335873.1:n.68+127C>G
NM_001348945.1:c.278+127C>G	NP_001335874.1:n.278+127C>G
NM_001348946.1:c.68+127C>G	NP_001335875.1:n.68+127C>G
NM_001348946.2:c.68+127C>G MANE Select	NP_001335875.1:n.68+127C>G
NM_000927.5:c.68+127C>G	NP_000918.2:n.68+127C>G
NM_001348944.2:c.68+127C>G	NP_001335873.1:n.68+127C>G
NM_001348945.2:c.278+127C>G	NP_001335874.1:n.278+127C>G