Canonical Allele Identifier: CA6399717

Gene: KCNA5

Linked Data

• ClinVar Variation Id: 579528
• ClinVar RCV Id: RCV000702837 ; RCV000994785
• dbSNP Id: rs369750762
• ExAC: 12:5154110 C / T
• gnomAD v2: 12-5154110-C-T
• gnomAD v3: 12-5044944-C-T
• gnomAD v4: 12-5044944-C-T
• MyVariant Identifiers: chr12:g.5154110C>T (hg19) ; chr12:g.5044944C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044944C>T , CM000674.2:g.5044944C>T	GRCh38
NC_000012.11:g.5154110C>T , CM000674.1:g.5154110C>T	GRCh37
NC_000012.10:g.5024371C>T	NCBI36
NG_012198.1:g.6026C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.797C>T MANE Select	ENSP00000252321.3:p.Thr266Ile
ENST00000252321.4:c.797C>T	ENSP00000252321.3:p.Thr266Ile
NM_002234.3:c.797C>T	NP_002225.2:p.Thr266Ile
NM_002234.4:c.797C>T MANE Select	NP_002225.2:p.Thr266Ile