Canonical Allele Identifier: CA10637700
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 309169
ClinVar RCV Id: RCV000315994 RCV000372987
dbSNP Id: rs138257860
gnomAD v2: 12-5023475-GCAAA-G
gnomAD v3: 12-4914309-GCAAA-G
gnomAD v4: 12-4914309-GCAAA-G
MyVariant Identifiers: chr12:g.5023492_5023495del (hg19) chr12:g.5023476_5023479del (hg19) chr12:g.4914326_4914329del (hg38) chr12:g.4914310_4914313del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4914326_4914329del , CM000674.2:g.4914326_4914329del GRCh38
NC_000012.11:g.5023492_5023495del , CM000674.1:g.5023492_5023495del GRCh37
NC_000012.10:g.4893753_4893756del NCBI36
NG_011815.1:g.9420_9423del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.*1460_*1463del MANE Select ENSP00000371985.3:n.*1460_*1463del
ENST00000543874.3:n.106-3460_106-3457del
ENST00000639306.1:c.2183+603_2183+606del ENSP00000492506.1:n.2183+603_2183+606del
ENST00000639680.1:c.159+603_159+606del
ENST00000382545.3:c.*1460_*1463del ENSP00000371985.3:n.*1460_*1463del
ENST00000541095.1:n.105+3854_105+3857del
ENST00000543874.2:n.97-3460_97-3457del
NM_000217.2:c.*1460_*1463del NP_000208.2:n.*1460_*1463del
NM_000217.3:c.*1460_*1463del MANE Select NP_000208.2:n.*1460_*1463del
Search 100 bp 5'
Search 100 bp 3'