Canonical Allele Identifier: CA399476737
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs1178177123
gnomAD v3: 17-41583637-G-C
gnomAD v4: 17-41583637-G-C
MyVariant Identifiers: chr17:g.39739889G>C (hg19) chr17:g.41583637G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583637G>C , CM000679.2:g.41583637G>C GRCh38
NC_000017.10:g.39739889G>C , CM000679.1:g.39739889G>C GRCh37
NC_000017.9:g.36993415G>C NCBI36
NG_008624.1:g.8259C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.967C>G MANE Select ENSP00000167586.6:p.Leu323Val
ENST00000167586.6:c.967C>G ENSP00000167586.6:p.Leu323Val
ENST00000476662.1:n.417C>G
NM_000526.4:c.967C>G NP_000517.2:p.Leu323Val
NM_000526.5:c.967C>G MANE Select NP_000517.3:p.Leu323Val
Search 100 bp 5'
Search 100 bp 3'