Canonical Allele Identifier: CA115911
Gene: KRT9 HGNC NCBI

Linked Data

ClinVar Variation Id: 3005
ClinVar RCV Id: RCV000003141 RCV000056457
dbSNP Id: rs28940896
MyVariant Identifiers: chr17:g.39727767G>C (hg19) chr17:g.41571515G>C (hg38)
PubMed: PMID:9204965 PMID:12838553
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000246662.9:c.478C>G MANE Select ENSP00000246662.4:p.Leu160Val
ENST00000246662.8:c.478C>G ENSP00000246662.4:p.Leu160Val
ENST00000588431.1:c.-189-33C>G ENSP00000467932.1:n.-189-33C>G
NM_000226.3:c.478C>G NP_000217.2:p.Leu160Val
NM_000226.4:c.478C>G MANE Select NP_000217.2:p.Leu160Val
Search 100 bp 5'
Search 100 bp 3'