Canonical Allele Identifier: CA8562479

Gene: KRT14

Linked Data

• ClinVar Variation Id: 711995
• ClinVar RCV Id: RCV000883837 ; RCV003920595
• dbSNP Id: rs139804375
• ExAC: 17:39739558 C / T
• gnomAD v2: 17-39739558-C-T
• gnomAD v3: 17-41583306-C-T
• gnomAD v4: 17-41583306-C-T
• MyVariant Identifiers: chr17:g.39739558C>T (hg19) ; chr17:g.41583306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41583306C>T , CM000679.2:g.41583306C>T	GRCh38
NC_000017.10:g.39739558C>T , CM000679.1:g.39739558C>T	GRCh37
NC_000017.9:g.36993084C>T	NCBI36
NG_008624.1:g.8590G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000167586.7:c.1203G>A MANE Select	ENSP00000167586.6:p.Leu401=
ENST00000167586.6:c.1203G>A	ENSP00000167586.6:p.Leu401=
ENST00000441550.2:n.150G>A
ENST00000476662.1:n.653G>A
NM_000526.4:c.1203G>A	NP_000517.2:p.Leu401=
NM_000526.5:c.1203G>A MANE Select	NP_000517.3:p.Leu401=