Canonical Allele Identifier: CA6581879

Gene: KRT6A

Linked Data

• ClinVar Variation Id: 2172762
• ClinVar RCV Id: RCV002591382
• dbSNP Id: rs773056995
• ExAC: 12:52882196 T / C
• gnomAD v2: 12-52882196-T-C
• gnomAD v3: 12-52488412-T-C
• gnomAD v4: 12-52488412-T-C
• MyVariant Identifiers: chr12:g.52882196T>C (hg19) ; chr12:g.52488412T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52488412T>C , CM000674.2:g.52488412T>C	GRCh38
NC_000012.11:g.52882196T>C , CM000674.1:g.52882196T>C	GRCh37
NC_000012.10:g.51168463T>C	NCBI36
NG_008298.1:g.9986A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330722.7:c.1340A>G MANE Select	ENSP00000369317.3:p.Glu447Gly
ENST00000330722.6:c.1340A>G	ENSP00000369317.3:p.Glu447Gly
NM_005554.3:c.1340A>G	NP_005545.1:p.Glu447Gly
NM_005554.4:c.1340A>G MANE Select	NP_005545.1:p.Glu447Gly