Canonical Allele Identifier: CA5617417
Gene: CYP2C9 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.94988980A>T
GRCh37 chr10:g.96748737A>T
gnomAD v2:
10:96748737 A / T
gnomAD v3:
10:94988980 A / T
gnomAD v4:
chr10-94988980-A-T
Joint Max Group AF 0.10836592 (SAS)
Genomes Max Group AF 0.10638042 (SAS)
Exomes Max Group AF 0.10808979 (SAS)
dbSNP:
1057911
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94988980A>T , CM000672.2:g.94988980A>T GRCh38
NC_000010.10:g.96748737A>T , CM000672.1:g.96748737A>T GRCh37
NC_000010.9:g.96738727A>T NCBI36
NG_008385.1:g.55323A>T
NG_008385.2:g.55823A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260682.8:c.1425A>T MANE Select ENSP00000260682.6:p.Gly475=
ENST00000643112.1:c.*434A>T ENSP00000496202.1:n.*434A>T
ENST00000260682.6:c.1425A>T ENSP00000260682.6:p.Gly475=
NM_000771.3:c.1425A>T NP_000762.2:p.Gly475=
NM_000771.4:c.1425A>T MANE Select NP_000762.2:p.Gly475=
Search 100 bp 5'
Search 100 bp 3'