Canonical Allele Identifier: CA115914
Gene: KRT9 HGNC NCBI

Linked Data

ClinVar Variation Id: 3008
ClinVar RCV Id: RCV003232984
dbSNP Id: rs28940896
MyVariant Identifiers: chr17:g.39727767G>A (hg19) chr17:g.41571515G>A (hg38)
PubMed: PMID:12838553
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41571515G>A , CM000679.2:g.41571515G>A GRCh38
NC_000017.10:g.39727767G>A , CM000679.1:g.39727767G>A GRCh37
NC_000017.9:g.36981293G>A NCBI36
NG_008300.1:g.5544C>T
NG_008300.2:g.5544C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000246662.9:c.478C>T MANE Select ENSP00000246662.4:p.Leu160Phe
ENST00000246662.8:c.478C>T ENSP00000246662.4:p.Leu160Phe
ENST00000588431.1:c.-189-33C>T ENSP00000467932.1:n.-189-33C>T
NM_000226.3:c.478C>T NP_000217.2:p.Leu160Phe
NM_000226.4:c.478C>T MANE Select NP_000217.2:p.Leu160Phe
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