Canonical Allele Identifier: CA8563777
Gene: KRT17 HGNC NCBI

Linked Data

ClinVar Variation Id: 808261
ClinVar RCV Id: RCV000996533
dbSNP Id: rs560097504
ExAC: 17:39780383 G / A
gnomAD v2: 17-39780383-G-A
gnomAD v3: 17-41624131-G-A
gnomAD v4: 17-41624131-G-A
COSMIC: COSM1662522
MyVariant Identifiers: chr17:g.39780383G>A (hg19) chr17:g.41624131G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41624131G>A , CM000679.2:g.41624131G>A GRCh38
NC_000017.10:g.39780383G>A , CM000679.1:g.39780383G>A GRCh37
NC_000017.9:g.37033909G>A NCBI36
NG_008625.1:g.5500C>T
NG_009090.2:g.167582C>T , LRG_401:g.167582C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311208.13:c.379C>T MANE Select ENSP00000308452.8:p.Pro127Ser
ENST00000311208.12:c.379C>T ENSP00000308452.8:p.Pro127Ser
ENST00000463128.5:c.-237C>T ENSP00000468672.1:n.-237C>T
ENST00000491673.1:n.445C>T
ENST00000493253.5:n.166C>T
ENST00000540235.5:c.130C>T ENSP00000441751.2:p.Pro44Ser
ENST00000577817.3:c.334C>T ENSP00000467418.1:p.Pro112Ser
NM_000422.2:c.379C>T NP_000413.1:p.Pro127Ser
NM_000422.3:c.379C>T MANE Select NP_000413.1:p.Pro127Ser
Search 100 bp 5'
Search 100 bp 3'