Canonical Allele Identifier: CA4328385

Gene: ABCB1

Linked Data

• dbSNP Id: rs767962530
• ExAC: 7:87179861 G / T
• gnomAD v2: 7-87179861-G-T
• gnomAD v4: 7-87550545-G-T
• MyVariant Identifiers: chr7:g.87179861G>T (hg19) ; chr7:g.87550545G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550545G>T , CM000669.2:g.87550545G>T	GRCh38
NC_000007.13:g.87179861G>T , CM000669.1:g.87179861G>T	GRCh37
NC_000007.12:g.87017797G>T	NCBI36
NG_011513.1:g.167704C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1147C>A	ENSP00000265724.3:p.His383Asn
ENST00000622132.5:c.1147C>A MANE Select	ENSP00000478255.1:p.His383Asn
ENST00000265724.7:c.1147C>A	ENSP00000265724.3:p.His383Asn
ENST00000543898.5:c.955C>A	ENSP00000444095.1:p.His319Asn
ENST00000622132.4:c.1147C>A	ENSP00000478255.1:p.His383Asn
NM_000927.4:c.1147C>A	NP_000918.2:p.His383Asn
NM_001348944.1:c.1147C>A	NP_001335873.1:p.His383Asn
NM_001348945.1:c.1357C>A	NP_001335874.1:p.His453Asn
NM_001348946.1:c.1147C>A	NP_001335875.1:p.His383Asn
NM_001348946.2:c.1147C>A MANE Select	NP_001335875.1:p.His383Asn
NM_000927.5:c.1147C>A	NP_000918.2:p.His383Asn
NM_001348944.2:c.1147C>A	NP_001335873.1:p.His383Asn
NM_001348945.2:c.1357C>A	NP_001335874.1:p.His453Asn