Canonical Allele Identifier: CA216613
Gene: KRT17 HGNC NCBI

Linked Data

ClinVar Variation Id: 14594
dbSNP Id: rs28928897

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41624229C>G , CM000679.2:g.41624229C>G GRCh38
NC_000017.10:g.39780481C>G , CM000679.1:g.39780481C>G GRCh37
NC_000017.9:g.37034007C>G NCBI36
NG_008625.1:g.5402G>C
NG_009090.2:g.167484G>C , LRG_401:g.167484G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311208.13:c.281G>C MANE Select ENSP00000308452.8:p.Arg94Pro
ENST00000311208.12:c.281G>C ENSP00000308452.8:p.Arg94Pro
ENST00000463128.5:c.-312-23G>C ENSP00000468672.1:n.-312-23G>C
ENST00000491673.1:n.347G>C
ENST00000493253.5:n.68G>C
ENST00000540235.5:c.71+5G>C ENSP00000441751.2:n.71+5G>C
ENST00000577817.3:c.236G>C ENSP00000467418.1:p.Arg79Pro
NM_000422.2:c.281G>C NP_000413.1:p.Arg94Pro
NM_000422.3:c.281G>C MANE Select NP_000413.1:p.Arg94Pro