Canonical Allele Identifier: CA368058866
Gene: ABCB1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.87544882G>T
GRCh37 chr7:g.87174198G>T
Revel Score:
ENST00000543174 0.246
ENST00000265724 0.246
ENST00000543898 0.246
gnomAD v2:
7:87174198 G / T
gnomAD v3:
7:87544882 G / T
gnomAD v4:
chr7-87544882-G-T
Joint Max Group AF 0.00000359 (NFE)
Exomes Max Group AF 0.0000031 (NFE)
dbSNP:
35023033
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2005C>A ENSP00000265724.3:p.Arg669Ser
ENST00000622132.5:c.2005C>A MANE Select ENSP00000478255.1:p.Arg669Ser
ENST00000265724.7:c.2005C>A ENSP00000265724.3:p.Arg669Ser
ENST00000543898.5:c.1813C>A ENSP00000444095.1:p.Arg605Ser
ENST00000622132.4:c.2005C>A ENSP00000478255.1:p.Arg669Ser
NM_000927.4:c.2005C>A NP_000918.2:p.Arg669Ser
NM_001348944.1:c.2005C>A NP_001335873.1:p.Arg669Ser
NM_001348945.1:c.2215C>A NP_001335874.1:p.Arg739Ser
NM_001348946.1:c.2005C>A NP_001335875.1:p.Arg669Ser
NM_001348946.2:c.2005C>A MANE Select NP_001335875.1:p.Arg669Ser
NM_000927.5:c.2005C>A NP_000918.2:p.Arg669Ser
NM_001348944.2:c.2005C>A NP_001335873.1:p.Arg669Ser
NM_001348945.2:c.2215C>A NP_001335874.1:p.Arg739Ser
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