Canonical Allele Identifier: CA384962366
Gene: KRT1 HGNC NCBI

Linked Data

dbSNP Id: rs761306590
gnomAD v2: 12-53070118-C-G
gnomAD v3: 12-52676334-C-G
gnomAD v4: 12-52676334-C-G
MyVariant Identifiers: chr12:g.53070118C>G (hg19) chr12:g.52676334C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52676334C>G , CM000674.2:g.52676334C>G GRCh38
NC_000012.11:g.53070118C>G , CM000674.1:g.53070118C>G GRCh37
NC_000012.10:g.51356385C>G NCBI36
NG_008364.1:g.9074G>C
NG_008364.2:g.9074G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252244.3:c.1416G>C MANE Select ENSP00000252244.3:p.Lys472Asn
ENST00000548765.1:n.490G>C
NM_006121.3:c.1416G>C NP_006112.3:p.Lys472Asn
NM_006121.4:c.1416G>C MANE Select NP_006112.3:p.Lys472Asn
Search 100 bp 5'
Search 100 bp 3'