Canonical Allele Identifier: CA216954
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 66365
ClinVar RCV Id: RCV000056736
dbSNP Id: rs267607397
gnomAD v4: 17-41586416-T-C
MyVariant Identifiers: chr17:g.39742668T>C (hg19) chr17:g.41586416T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41586416T>C , CM000679.2:g.41586416T>C GRCh38
NC_000017.10:g.39742668T>C , CM000679.1:g.39742668T>C GRCh37
NC_000017.9:g.36996194T>C NCBI36
NG_008624.1:g.5480A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.419A>G MANE Select ENSP00000167586.6:p.Asn140Ser
ENST00000167586.6:c.419A>G ENSP00000167586.6:p.Asn140Ser
NM_000526.4:c.419A>G NP_000517.2:p.Asn140Ser
NM_000526.5:c.419A>G MANE Select NP_000517.3:p.Asn140Ser
Search 100 bp 5'
Search 100 bp 3'