Canonical Allele Identifier: CA383466733

Gene: KCNA5

Linked Data

• dbSNP Id: rs1433357680
• gnomAD v2: 12-5154869-T-G
• gnomAD v4: 12-5045703-T-G
• MyVariant Identifiers: chr12:g.5154869T>G (hg19) ; chr12:g.5045703T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5045703T>G , CM000674.2:g.5045703T>G	GRCh38
NC_000012.11:g.5154869T>G , CM000674.1:g.5154869T>G	GRCh37
NC_000012.10:g.5025130T>G	NCBI36
NG_012198.1:g.6785T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.1556T>G MANE Select	ENSP00000252321.3:p.Phe519Cys
ENST00000252321.4:c.1556T>G	ENSP00000252321.3:p.Phe519Cys
NM_002234.3:c.1556T>G	NP_002225.2:p.Phe519Cys
NM_002234.4:c.1556T>G MANE Select	NP_002225.2:p.Phe519Cys