Canonical Allele Identifier: CA8562592

Gene: KRT14

Linked Data

• dbSNP Id: rs375620492
• ExAC: 17:39740094 C / T
• gnomAD v2: 17-39740094-C-T
• gnomAD v3: 17-41583842-C-T
• gnomAD v4: 17-41583842-C-T
• MyVariant Identifiers: chr17:g.39740094C>T (hg19) ; chr17:g.41583842C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41583842C>T , CM000679.2:g.41583842C>T	GRCh38
NC_000017.10:g.39740094C>T , CM000679.1:g.39740094C>T	GRCh37
NC_000017.9:g.36993620C>T	NCBI36
NG_008624.1:g.8054G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000167586.7:c.845G>A MANE Select	ENSP00000167586.6:p.Arg282His
ENST00000167586.6:c.845G>A	ENSP00000167586.6:p.Arg282His
ENST00000476662.1:n.295G>A
NM_000526.4:c.845G>A	NP_000517.2:p.Arg282His
NM_000526.5:c.845G>A MANE Select	NP_000517.3:p.Arg282His