Canonical Allele Identifier: CA124156

Gene: KRT17

Linked Data

• ClinVar Variation Id: 14591
• ClinVar RCV Id: RCV000015694 ; RCV000056513 ; RCV000114415
• dbSNP Id: rs58730926
• gnomAD v2: 17-39780482-G-A
• gnomAD v3: 17-41624230-G-A
• gnomAD v4: 17-41624230-G-A
• COSMIC: COSM436599
• MyVariant Identifiers: chr17:g.39780482G>A (hg19) ; chr17:g.41624230G>A (hg38)
• PubMed: PMID:9767294

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41624230G>A , CM000679.2:g.41624230G>A	GRCh38
NC_000017.10:g.39780482G>A , CM000679.1:g.39780482G>A	GRCh37
NC_000017.9:g.37034008G>A	NCBI36
NG_008625.1:g.5401C>T
NG_009090.2:g.167483C>T , LRG_401:g.167483C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000311208.13:c.280C>T MANE Select	ENSP00000308452.8:p.Arg94Cys
ENST00000311208.12:c.280C>T	ENSP00000308452.8:p.Arg94Cys
ENST00000463128.5:c.-312-24C>T	ENSP00000468672.1:n.-312-24C>T
ENST00000491673.1:n.346C>T
ENST00000493253.5:n.67C>T
ENST00000540235.5:c.71+4C>T	ENSP00000441751.2:n.71+4C>T
ENST00000577817.3:c.235C>T	ENSP00000467418.1:p.Arg79Cys
NM_000422.2:c.280C>T	NP_000413.1:p.Arg94Cys
NM_000422.3:c.280C>T MANE Select	NP_000413.1:p.Arg94Cys