Canonical Allele Identifier: CA4328153
Gene: ABCB1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.87544882G>A
GRCh37 chr7:g.87174198G>A
Revel Score:
ENST00000543174 0.208
ENST00000265724 0.208
ENST00000543898 0.208
gnomAD v2:
7:87174198 G / A
gnomAD v3:
7:87544882 G / A
gnomAD v4:
chr7-87544882-G-A
Joint Max Group AF 0.00776554 (AFR)
Genomes Max Group AF 0.0076306 (AFR)
Exomes Max Group AF 0.0074457 (AFR)
dbSNP:
35023033
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87544882G>A , CM000669.2:g.87544882G>A GRCh38
NC_000007.13:g.87174198G>A , CM000669.1:g.87174198G>A GRCh37
NC_000007.12:g.87012134G>A NCBI36
NG_011513.1:g.173367C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2005C>T ENSP00000265724.3:p.Arg669Cys
ENST00000622132.5:c.2005C>T MANE Select ENSP00000478255.1:p.Arg669Cys
ENST00000265724.7:c.2005C>T ENSP00000265724.3:p.Arg669Cys
ENST00000543898.5:c.1813C>T ENSP00000444095.1:p.Arg605Cys
ENST00000622132.4:c.2005C>T ENSP00000478255.1:p.Arg669Cys
NM_000927.4:c.2005C>T NP_000918.2:p.Arg669Cys
NM_001348944.1:c.2005C>T NP_001335873.1:p.Arg669Cys
NM_001348945.1:c.2215C>T NP_001335874.1:p.Arg739Cys
NM_001348946.1:c.2005C>T NP_001335875.1:p.Arg669Cys
NM_001348946.2:c.2005C>T MANE Select NP_001335875.1:p.Arg669Cys
NM_000927.5:c.2005C>T NP_000918.2:p.Arg669Cys
NM_001348944.2:c.2005C>T NP_001335873.1:p.Arg669Cys
NM_001348945.2:c.2215C>T NP_001335874.1:p.Arg739Cys
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