Canonical Allele Identifier: CA8563888
Gene: KRT17 HGNC NCBI

Linked Data

ClinVar Variation Id: 2895755
ClinVar RCV Id: RCV003728567
dbSNP Id: rs563778160
ExAC: 17:39780753 G / A
gnomAD v2: 17-39780753-G-A
gnomAD v3: 17-41624501-G-A
gnomAD v4: 17-41624501-G-A
MyVariant Identifiers: chr17:g.39780753G>A (hg19) chr17:g.41624501G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41624501G>A , CM000679.2:g.41624501G>A GRCh38
NC_000017.10:g.39780753G>A , CM000679.1:g.39780753G>A GRCh37
NC_000017.9:g.37034279G>A NCBI36
NG_008625.1:g.5130C>T
NG_009090.2:g.167212C>T , LRG_401:g.167212C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311208.13:c.9C>T MANE Select ENSP00000308452.8:p.Thr3=
ENST00000311208.12:c.9C>T ENSP00000308452.8:p.Thr3=
ENST00000463128.5:c.-313+242C>T ENSP00000468672.1:n.-313+242C>T
ENST00000491673.1:n.75C>T
ENST00000540235.5:c.-197C>T ENSP00000441751.2:n.-197C>T
NM_000422.2:c.9C>T NP_000413.1:p.Thr3=
NM_000422.3:c.9C>T MANE Select NP_000413.1:p.Thr3=
Search 100 bp 5'
Search 100 bp 3'