Canonical Allele Identifier: CA217408

Gene: KRT1

Linked Data

• ClinVar Variation Id: 66619
• ClinVar RCV Id: RCV000057053 ; RCV003232986
• dbSNP Id: rs267607421
• gnomAD v4: 12-52677058-C-T
• MyVariant Identifiers: chr12:g.53070842C>T (hg19) ; chr12:g.52677058C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52677058C>T , CM000674.2:g.52677058C>T	GRCh38
NC_000012.11:g.53070842C>T , CM000674.1:g.53070842C>T	GRCh37
NC_000012.10:g.51357109C>T	NCBI36
NG_008364.1:g.8350G>A
NG_008364.2:g.8350G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252244.3:c.1254+1G>A MANE Select	ENSP00000252244.3:n.1254+1G>A
ENST00000548765.1:n.328+1G>A
NM_006121.3:c.1254+1G>A	NP_006112.3:n.1254+1G>A
NM_006121.4:c.1254+1G>A MANE Select	NP_006112.3:n.1254+1G>A