Canonical Allele Identifier: CA8563851
Gene: KRT17 HGNC NCBI

Linked Data

ClinVar Variation Id: 793362
ClinVar RCV Id: RCV000976543 RCV003972973
dbSNP Id: rs547257458
ExAC: 17:39780663 G / A
gnomAD v2: 17-39780663-G-A
gnomAD v3: 17-41624411-G-A
gnomAD v4: 17-41624411-G-A
MyVariant Identifiers: chr17:g.39780663G>A (hg19) chr17:g.41624411G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41624411G>A , CM000679.2:g.41624411G>A GRCh38
NC_000017.10:g.39780663G>A , CM000679.1:g.39780663G>A GRCh37
NC_000017.9:g.37034189G>A NCBI36
NG_008625.1:g.5220C>T
NG_009090.2:g.167302C>T , LRG_401:g.167302C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311208.13:c.99C>T MANE Select ENSP00000308452.8:p.Gly33=
ENST00000311208.12:c.99C>T ENSP00000308452.8:p.Gly33=
ENST00000463128.5:c.-312-205C>T ENSP00000468672.1:n.-312-205C>T
ENST00000491673.1:n.165C>T
ENST00000540235.5:c.-107C>T ENSP00000441751.2:n.-107C>T
ENST00000577817.3:c.54C>T ENSP00000467418.1:p.Gly18=
NM_000422.2:c.99C>T NP_000413.1:p.Gly33=
NM_000422.3:c.99C>T MANE Select NP_000413.1:p.Gly33=
Search 100 bp 5'
Search 100 bp 3'