Canonical Allele Identifier: CA5617268
Gene: CYP2C9 HGNC NCBI

Linked Data

dbSNP Id: rs1454934321
ExAC: 10:96740948 C / T
gnomAD v2: 10-96740948-C-T
gnomAD v3: 10-94981191-C-T
gnomAD v4: 10-94981191-C-T
COSMIC: COSM3442011
MyVariant Identifiers: chr10:g.96740948C>T (hg19) chr10:g.96740948_96740949delinsTA (hg19) chr10:g.94981191C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94981191C>T , CM000672.2:g.94981191C>T GRCh38
NC_000010.10:g.96740948C>T , CM000672.1:g.96740948C>T GRCh37
NC_000010.9:g.96730938C>T NCBI36
NG_008385.1:g.47534C>T
NG_008385.2:g.48034C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260682.8:c.970C>T MANE Select ENSP00000260682.6:p.Gln324Ter
ENST00000643112.1:c.828C>T ENSP00000496202.1:p.Ser276=
ENST00000260682.6:c.970C>T ENSP00000260682.6:p.Gln324Ter
NM_000771.3:c.970C>T NP_000762.2:p.Gln324Ter
NM_000771.4:c.970C>T MANE Select NP_000762.2:p.Gln324Ter
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