Canonical Allele Identifier: CA399475224
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs1319485636
gnomAD v3: 17-41583244-T-G
gnomAD v4: 17-41583244-T-G
MyVariant Identifiers: chr17:g.39739496T>G (hg19) chr17:g.41583244T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583244T>G , CM000679.2:g.41583244T>G GRCh38
NC_000017.10:g.39739496T>G , CM000679.1:g.39739496T>G GRCh37
NC_000017.9:g.36993022T>G NCBI36
NG_008624.1:g.8652A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.1265A>C MANE Select ENSP00000167586.6:p.Glu422Ala
ENST00000167586.6:c.1265A>C ENSP00000167586.6:p.Glu422Ala
ENST00000441550.2:n.212A>C
NM_000526.4:c.1265A>C NP_000517.2:p.Glu422Ala
NM_000526.5:c.1265A>C MANE Select NP_000517.3:p.Glu422Ala
Search 100 bp 5'
Search 100 bp 3'