Canonical Allele Identifier: CA383466301

Gene: KCNA5

Linked Data

• ClinVar Variation Id: 523450
• ClinVar RCV Id: RCV001195958 ; RCV001841809
• dbSNP Id: rs1486417435
• gnomAD v4: 12-5045501-G-A
• MyVariant Identifiers: chr12:g.5154667G>A (hg19) ; chr12:g.5045501G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5045501G>A , CM000674.2:g.5045501G>A	GRCh38
NC_000012.11:g.5154667G>A , CM000674.1:g.5154667G>A	GRCh37
NC_000012.10:g.5024928G>A	NCBI36
NG_012198.1:g.6583G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252321.5:c.1354G>A MANE Select	ENSP00000252321.3:p.Val452Ile
ENST00000252321.4:c.1354G>A	ENSP00000252321.3:p.Val452Ile
NM_002234.3:c.1354G>A	NP_002225.2:p.Val452Ile
NM_002234.4:c.1354G>A MANE Select	NP_002225.2:p.Val452Ile