Canonical Allele Identifier: CA8563893
Gene: KRT17 HGNC NCBI

Linked Data

ClinVar Variation Id: 3037712
ClinVar RCV Id: RCV003917097
dbSNP Id: rs187586045
ExAC: 17:39780766 G / A
gnomAD v2: 17-39780766-G-A
gnomAD v3: 17-41624514-G-A
gnomAD v4: 17-41624514-G-A
MyVariant Identifiers: chr17:g.39780766G>A (hg19) chr17:g.41624514G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41624514G>A , CM000679.2:g.41624514G>A GRCh38
NC_000017.10:g.39780766G>A , CM000679.1:g.39780766G>A GRCh37
NC_000017.9:g.37034292G>A NCBI36
NG_008625.1:g.5117C>T
NG_009090.2:g.167199C>T , LRG_401:g.167199C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311208.13:c.-5C>T MANE Select ENSP00000308452.8:n.-5C>T
ENST00000311208.12:c.-5C>T ENSP00000308452.8:n.-5C>T
ENST00000463128.5:c.-313+229C>T ENSP00000468672.1:n.-313+229C>T
ENST00000491673.1:n.62C>T
ENST00000540235.5:c.-210C>T ENSP00000441751.2:n.-210C>T
NM_000422.2:c.-5C>T NP_000413.1:n.-5C>T
NM_000422.3:c.-5C>T MANE Select NP_000413.1:n.-5C>T
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