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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA5617301
Gene: CYP2C9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225984
ClinVar RCV Id:
RCV000308849
RCV000787931
RCV000788095
RCV000788101
dbSNP Id:
rs28371686
ExAC:
10:96741058 C / G
gnomAD v2:
10-96741058-C-G
gnomAD v3:
10-94981301-C-G
gnomAD v4:
10-94981301-C-G
MyVariant Identifiers:
chr10:g.96741058C>G (hg19)
chr10:g.94981301C>G (hg38)
PubMed:
PMID:19387626
PMID:19802360
PMID:20072124
PMID:21228733
PMID:22992668
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94981301C>G , CM000672.2:g.94981301C>G
GRCh38
NC_000010.10:g.96741058C>G , CM000672.1:g.96741058C>G
GRCh37
NC_000010.9:g.96731048C>G
NCBI36
NG_008385.1:g.47644C>G
NG_008385.2:g.48144C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000260682.8:c.1080C>G
MANE Select
ENSP00000260682.6:p.Asp360Glu
ENST00000643112.1:c.*89C>G
ENSP00000496202.1:n.*89C>G
ENST00000260682.6:c.1080C>G
ENSP00000260682.6:p.Asp360Glu
NM_000771.3:c.1080C>G
NP_000762.2:p.Asp360Glu
NM_000771.4:c.1080C>G
MANE Select
NP_000762.2:p.Asp360Glu
Search 100 bp 5'
Search 100 bp 3'