Canonical Allele Identifier: CA384962352
Gene: KRT1 HGNC NCBI

Linked Data

dbSNP Id: rs1314439194
gnomAD v2: 12-53070114-C-T
gnomAD v4: 12-52676330-C-T
MyVariant Identifiers: chr12:g.53070114C>T (hg19) chr12:g.52676330C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52676330C>T , CM000674.2:g.52676330C>T GRCh38
NC_000012.11:g.53070114C>T , CM000674.1:g.53070114C>T GRCh37
NC_000012.10:g.51356381C>T NCBI36
NG_008364.1:g.9078G>A
NG_008364.2:g.9078G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252244.3:c.1420G>A MANE Select ENSP00000252244.3:p.Ala474Thr
ENST00000548765.1:n.494G>A
NM_006121.3:c.1420G>A NP_006112.3:p.Ala474Thr
NM_006121.4:c.1420G>A MANE Select NP_006112.3:p.Ala474Thr
Search 100 bp 5'
Search 100 bp 3'