Canonical Allele Identifier: CA6586007
Gene: KRT1 HGNC NCBI
COSMIC:
COSM3753360 (not active)
MyVariant.info:
GRCh38 chr12:g.52675230T>C
GRCh37 chr12:g.53069014T>C
Revel Score:
ENST00000252244 (MANE Select) 0.143
gnomAD v2:
12:53069014 T / C
gnomAD v3:
12:52675230 T / C
gnomAD v4:
chr12-52675230-T-C
Joint Max Group AF 0.5872297 (EAS)
Genomes Max Group AF 0.55992474 (EAS)
Exomes Max Group AF 0.58891785 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675230T>C , CM000674.2:g.52675230T>C GRCh38
NC_000012.11:g.53069014T>C , CM000674.1:g.53069014T>C GRCh37
NC_000012.10:g.51355281T>C NCBI36
NG_008364.1:g.10178A>G
NG_008364.2:g.10178A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1898A>G MANE Select ENSP00000252244.3:p.Lys633Arg
NM_006121.3:c.1898A>G NP_006112.3:p.Lys633Arg
NM_006121.4:c.1898A>G MANE Select NP_006112.3:p.Lys633Arg
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