Canonical Allele Identifier: CA399483441
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs566001198
gnomAD v2: 17-39742965-C-A
gnomAD v3: 17-41586713-C-A
gnomAD v4: 17-41586713-C-A
MyVariant Identifiers: chr17:g.39742965C>A (hg19) chr17:g.41586713C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41586713C>A , CM000679.2:g.41586713C>A GRCh38
NC_000017.10:g.39742965C>A , CM000679.1:g.39742965C>A GRCh37
NC_000017.9:g.36996491C>A NCBI36
NG_008624.1:g.5183G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.122G>T MANE Select ENSP00000167586.6:p.Arg41Leu
ENST00000167586.6:c.122G>T ENSP00000167586.6:p.Arg41Leu
NM_000526.4:c.122G>T NP_000517.2:p.Arg41Leu
NM_000526.5:c.122G>T MANE Select NP_000517.3:p.Arg41Leu
Search 100 bp 5'
Search 100 bp 3'