Canonical Allele Identifier: CA248416
Gene: KRT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 156713
ClinVar RCV Id: RCV000190291
dbSNP Id: rs371843007
MyVariant Identifiers: chr12:g.53069246C>G (hg19) chr12:g.52675462C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675462C>G , CM000674.2:g.52675462C>G GRCh38
NC_000012.11:g.53069246C>G , CM000674.1:g.53069246C>G GRCh37
NC_000012.10:g.51355513C>G NCBI36
NG_008364.1:g.9946G>C
NG_008364.2:g.9946G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252244.3:c.1666G>C MANE Select ENSP00000252244.3:p.Gly556Arg
NM_006121.3:c.1666G>C NP_006112.3:p.Gly556Arg
NM_006121.4:c.1666G>C MANE Select NP_006112.3:p.Gly556Arg
Search 100 bp 5'
Search 100 bp 3'