Canonical Allele Identifier: CA6399683
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 661693
ClinVar RCV Id: RCV000819168 RCV001565818
dbSNP Id: rs3197074
ExAC: 12:5153953 C / T
gnomAD v2: 12-5153953-C-T
gnomAD v3: 12-5044787-C-T
gnomAD v4: 12-5044787-C-T
MyVariant Identifiers: chr12:g.5153953C>T (hg19) chr12:g.5044787C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044787C>T , CM000674.2:g.5044787C>T GRCh38
NC_000012.11:g.5153953C>T , CM000674.1:g.5153953C>T GRCh37
NC_000012.10:g.5024214C>T NCBI36
NG_012198.1:g.5869C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.640C>T MANE Select ENSP00000252321.3:p.Arg214Cys
ENST00000252321.4:c.640C>T ENSP00000252321.3:p.Arg214Cys
NM_002234.3:c.640C>T NP_002225.2:p.Arg214Cys
NM_002234.4:c.640C>T MANE Select NP_002225.2:p.Arg214Cys
Search 100 bp 5'
Search 100 bp 3'