Canonical Allele Identifier: CA216837

Gene: KRT14

Linked Data

• ClinVar Variation Id: 66309
• ClinVar RCV Id: RCV000056672 ; RCV001823105 ; RCV003338401 ; RCV003338402
• dbSNP Id: rs58393329
• gnomAD v2: 17-39739575-G-A
• gnomAD v4: 17-41583323-G-A
• MyVariant Identifiers: chr17:g.39739575G>A (hg19) ; chr17:g.41583323G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41583323G>A , CM000679.2:g.41583323G>A	GRCh38
NC_000017.10:g.39739575G>A , CM000679.1:g.39739575G>A	GRCh37
NC_000017.9:g.36993101G>A	NCBI36
NG_008624.1:g.8573C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000167586.7:c.1186C>T MANE Select	ENSP00000167586.6:p.Gln396Ter
ENST00000167586.6:c.1186C>T	ENSP00000167586.6:p.Gln396Ter
ENST00000441550.2:n.133C>T
ENST00000476662.1:n.636C>T
NM_000526.4:c.1186C>T	NP_000517.2:p.Gln396Ter
NM_000526.5:c.1186C>T MANE Select	NP_000517.3:p.Gln396Ter