Canonical Allele Identifier: CA290664980

Gene: KRT14

Linked Data

• dbSNP Id: rs372673327
• gnomAD v2: 17-39739970-A-C
• gnomAD v3: 17-41583718-A-C
• gnomAD v4: 17-41583718-A-C
• MyVariant Identifiers: chr17:g.39739970A>C (hg19) ; chr17:g.41583718A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41583718A>C , CM000679.2:g.41583718A>C	GRCh38
NC_000017.10:g.39739970A>C , CM000679.1:g.39739970A>C	GRCh37
NC_000017.9:g.36993496A>C	NCBI36
NG_008624.1:g.8178T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000167586.7:c.928-42T>G MANE Select	ENSP00000167586.6:n.928-42T>G
ENST00000167586.6:c.928-42T>G	ENSP00000167586.6:n.928-42T>G
ENST00000476662.1:n.378-42T>G
NM_000526.4:c.928-42T>G	NP_000517.2:n.928-42T>G
NM_000526.5:c.928-42T>G MANE Select	NP_000517.3:n.928-42T>G