Canonical Allele Identifier: CA377676941
Gene: CYP2C9 HGNC NCBI

Linked Data

dbSNP Id: rs1330185371
gnomAD v2: 10-96748652-T-C
MyVariant Identifiers: chr10:g.96748652T>C (hg19) chr10:g.94988895T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94988895T>C , CM000672.2:g.94988895T>C GRCh38
NC_000010.10:g.96748652T>C , CM000672.1:g.96748652T>C GRCh37
NC_000010.9:g.96738642T>C NCBI36
NG_008385.1:g.55238T>C
NG_008385.2:g.55738T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260682.8:c.1340T>C MANE Select ENSP00000260682.6:p.Leu447Ser
ENST00000643112.1:c.*349T>C ENSP00000496202.1:n.*349T>C
ENST00000260682.6:c.1340T>C ENSP00000260682.6:p.Leu447Ser
NM_000771.3:c.1340T>C NP_000762.2:p.Leu447Ser
NM_000771.4:c.1340T>C MANE Select NP_000762.2:p.Leu447Ser
Search 100 bp 5'
Search 100 bp 3'