Canonical Allele Identifier: CA236715

Gene: KCNA5

Linked Data

• ClinVar Variation Id: 191460
• ClinVar RCV Id: RCV000171652 ; RCV000646137
• dbSNP Id: rs77281462
• ExAC: 12:5153947 C / T
• gnomAD v2: 12-5153947-C-T
• gnomAD v3: 12-5044781-C-T
• gnomAD v4: 12-5044781-C-T
• MyVariant Identifiers: chr12:g.5153947C>T (hg19) ; chr12:g.5044781C>T (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044781C>T , CM000674.2:g.5044781C>T	GRCh38
NC_000012.11:g.5153947C>T , CM000674.1:g.5153947C>T	GRCh37
NC_000012.10:g.5024208C>T	NCBI36
NG_012198.1:g.5863C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.634C>T MANE Select	ENSP00000252321.3:p.Arg212Cys
ENST00000252321.4:c.634C>T	ENSP00000252321.3:p.Arg212Cys
NM_002234.3:c.634C>T	NP_002225.2:p.Arg212Cys
NM_002234.4:c.634C>T MANE Select	NP_002225.2:p.Arg212Cys