Canonical Allele Identifier: CA8563894

Gene: KRT17

Linked Data

• ClinVar Variation Id: 380281
• ClinVar RCV Id: RCV000433488 ; RCV003970136
• dbSNP Id: rs11553457
• ExAC: 17:39780767 C / G
• gnomAD v2: 17-39780767-C-G
• gnomAD v3: 17-41624515-C-G
• gnomAD v4: 17-41624515-C-G
• MyVariant Identifiers: chr17:g.39780767C>G (hg19) ; chr17:g.41624515C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41624515C>G , CM000679.2:g.41624515C>G	GRCh38
NC_000017.10:g.39780767C>G , CM000679.1:g.39780767C>G	GRCh37
NC_000017.9:g.37034293C>G	NCBI36
NG_008625.1:g.5116G>C
NG_009090.2:g.167198G>C , LRG_401:g.167198G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311208.13:c.-6G>C MANE Select	ENSP00000308452.8:n.-6G>C
ENST00000311208.12:c.-6G>C	ENSP00000308452.8:n.-6G>C
ENST00000463128.5:c.-313+228G>C	ENSP00000468672.1:n.-313+228G>C
ENST00000491673.1:n.61G>C
ENST00000540235.5:c.-211G>C	ENSP00000441751.2:n.-211G>C
NM_000422.2:c.-6G>C	NP_000413.1:n.-6G>C
NM_000422.3:c.-6G>C MANE Select	NP_000413.1:n.-6G>C