Canonical Allele Identifier: CA8563781
Gene: KRT17 HGNC NCBI

Linked Data

ClinVar Variation Id: 1521226
ClinVar RCV Id: RCV002046264
dbSNP Id: rs754908705
ExAC: 17:39780388 G / C
gnomAD v2: 17-39780388-G-C
gnomAD v3: 17-41624136-G-C
gnomAD v4: 17-41624136-G-C
MyVariant Identifiers: chr17:g.39780388G>C (hg19) chr17:g.41624136G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41624136G>C , CM000679.2:g.41624136G>C GRCh38
NC_000017.10:g.39780388G>C , CM000679.1:g.39780388G>C GRCh37
NC_000017.9:g.37033914G>C NCBI36
NG_008625.1:g.5495C>G
NG_009090.2:g.167577C>G , LRG_401:g.167577C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311208.13:c.374C>G MANE Select ENSP00000308452.8:p.Pro125Arg
ENST00000311208.12:c.374C>G ENSP00000308452.8:p.Pro125Arg
ENST00000463128.5:c.-242C>G ENSP00000468672.1:n.-242C>G
ENST00000491673.1:n.440C>G
ENST00000493253.5:n.161C>G
ENST00000540235.5:c.125C>G ENSP00000441751.2:p.Pro42Arg
ENST00000577817.3:c.329C>G ENSP00000467418.1:p.Pro110Arg
NM_000422.2:c.374C>G NP_000413.1:p.Pro125Arg
NM_000422.3:c.374C>G MANE Select NP_000413.1:p.Pro125Arg
Search 100 bp 5'
Search 100 bp 3'