Canonical Allele Identifier: CA115913

Gene: KRT9

Linked Data

• ClinVar Variation Id: 3007
• ClinVar RCV Id: RCV000003143 ; RCV000056471
• dbSNP Id: rs57019720
• gnomAD v4: 17-41571482-C-T
• MyVariant Identifiers: chr17:g.39727734C>T (hg19) ; chr17:g.41571482C>T (hg38)
• PubMed: PMID:12072061 ; PMID:12838553

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41571482C>T , CM000679.2:g.41571482C>T	GRCh38
NC_000017.10:g.39727734C>T , CM000679.1:g.39727734C>T	GRCh37
NC_000017.9:g.36981260C>T	NCBI36
NG_008300.1:g.5577G>A
NG_008300.2:g.5577G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246662.9:c.511G>A MANE Select	ENSP00000246662.4:p.Val171Met
ENST00000246662.8:c.511G>A	ENSP00000246662.4:p.Val171Met
ENST00000588431.1:c.-189G>A	ENSP00000467932.1:n.-189G>A
NM_000226.3:c.511G>A	NP_000217.2:p.Val171Met
NM_000226.4:c.511G>A MANE Select	NP_000217.2:p.Val171Met