Canonical Allele Identifier: CA6399602

Gene: KCNA5

Linked Data

• ClinVar Variation Id: 309336
• ClinVar RCV Id: RCV000555990 ; RCV001675792 ; RCV001699303
• dbSNP Id: rs45504599
• ExAC: 12:5153694 C / T
• gnomAD v2: 12-5153694-C-T
• gnomAD v3: 12-5044528-C-T
• gnomAD v4: 12-5044528-C-T
• MyVariant Identifiers: chr12:g.5153694C>T (hg19) ; chr12:g.5044528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044528C>T , CM000674.2:g.5044528C>T	GRCh38
NC_000012.11:g.5153694C>T , CM000674.1:g.5153694C>T	GRCh37
NC_000012.10:g.5023955C>T	NCBI36
NG_012198.1:g.5610C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252321.5:c.381C>T MANE Select	ENSP00000252321.3:p.Ser127=
ENST00000252321.4:c.381C>T	ENSP00000252321.3:p.Ser127=
NM_002234.3:c.381C>T	NP_002225.2:p.Ser127=
NM_002234.4:c.381C>T MANE Select	NP_002225.2:p.Ser127=