Canonical Allele Identifier: CA6581871
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 2360404
ClinVar RCV Id: RCV002978606
dbSNP Id: rs180935064
ExAC: 12:52882158 C / T
gnomAD v2: 12-52882158-C-T
gnomAD v3: 12-52488374-C-T
gnomAD v4: 12-52488374-C-T
MyVariant Identifiers: chr12:g.52882158C>T (hg19) chr12:g.52488374C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488374C>T , CM000674.2:g.52488374C>T GRCh38
NC_000012.11:g.52882158C>T , CM000674.1:g.52882158C>T GRCh37
NC_000012.10:g.51168425C>T NCBI36
NG_008298.1:g.10024G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1378G>A MANE Select ENSP00000369317.3:p.Val460Met
ENST00000330722.6:c.1378G>A ENSP00000369317.3:p.Val460Met
NM_005554.3:c.1378G>A NP_005545.1:p.Val460Met
NM_005554.4:c.1378G>A MANE Select NP_005545.1:p.Val460Met
Search 100 bp 5'
Search 100 bp 3'