Canonical Allele Identifier: CA4328159

Gene: ABCB1

Linked Data

• ClinVar Variation Id: 3039097
• ClinVar RCV Id: RCV003914435
• dbSNP Id: rs138422716
• ExAC: 7:87174219 G / A
• gnomAD v2: 7-87174219-G-A
• gnomAD v3: 7-87544903-G-A
• gnomAD v4: 7-87544903-G-A
• MyVariant Identifiers: chr7:g.87174219G>A (hg19) ; chr7:g.87544903G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87544903G>A , CM000669.2:g.87544903G>A	GRCh38
NC_000007.13:g.87174219G>A , CM000669.1:g.87174219G>A	GRCh37
NC_000007.12:g.87012155G>A	NCBI36
NG_011513.1:g.173346C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1984C>T	ENSP00000265724.3:p.Leu662=
ENST00000622132.5:c.1984C>T MANE Select	ENSP00000478255.1:p.Leu662=
ENST00000265724.7:c.1984C>T	ENSP00000265724.3:p.Leu662=
ENST00000543898.5:c.1792C>T	ENSP00000444095.1:p.Leu598=
ENST00000622132.4:c.1984C>T	ENSP00000478255.1:p.Leu662=
NM_000927.4:c.1984C>T	NP_000918.2:p.Leu662=
NM_001348944.1:c.1984C>T	NP_001335873.1:p.Leu662=
NM_001348945.1:c.2194C>T	NP_001335874.1:p.Leu732=
NM_001348946.1:c.1984C>T	NP_001335875.1:p.Leu662=
NM_001348946.2:c.1984C>T MANE Select	NP_001335875.1:p.Leu662=
NM_000927.5:c.1984C>T	NP_000918.2:p.Leu662=
NM_001348944.2:c.1984C>T	NP_001335873.1:p.Leu662=
NM_001348945.2:c.2194C>T	NP_001335874.1:p.Leu732=