Canonical Allele Identifier: CA8562785

Gene: KRT14

Linked Data

• dbSNP Id: rs374199640
• ExAC: 17:39742881 T / C
• gnomAD v2: 17-39742881-T-C
• gnomAD v3: 17-41586629-T-C
• gnomAD v4: 17-41586629-T-C
• MyVariant Identifiers: chr17:g.39742881T>C (hg19) ; chr17:g.41586629T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41586629T>C , CM000679.2:g.41586629T>C	GRCh38
NC_000017.10:g.39742881T>C , CM000679.1:g.39742881T>C	GRCh37
NC_000017.9:g.36996407T>C	NCBI36
NG_008624.1:g.5267A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000167586.7:c.206A>G MANE Select	ENSP00000167586.6:p.Tyr69Cys
ENST00000167586.6:c.206A>G	ENSP00000167586.6:p.Tyr69Cys
NM_000526.4:c.206A>G	NP_000517.2:p.Tyr69Cys
NM_000526.5:c.206A>G MANE Select	NP_000517.3:p.Tyr69Cys