Canonical Allele Identifier: CA231855745
Gene: KCNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1596684
ClinVar RCV Id: RCV002113455
dbSNP Id: rs1020491546
gnomAD v2: 12-5021189-C-T
gnomAD v3: 12-4912023-C-T
gnomAD v4: 12-4912023-C-T
MyVariant Identifiers: chr12:g.5021189C>T (hg19) chr12:g.4912023C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912023C>T , CM000674.2:g.4912023C>T GRCh38
NC_000012.11:g.5021189C>T , CM000674.1:g.5021189C>T GRCh37
NC_000012.10:g.4891450C>T NCBI36
NG_011815.1:g.7117C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.645C>T MANE Select ENSP00000371985.3:p.Asn215=
ENST00000543874.3:n.105+1551C>T
ENST00000639306.1:c.483C>T ENSP00000492506.1:p.Asn161=
ENST00000382545.3:c.645C>T ENSP00000371985.3:p.Asn215=
ENST00000541095.1:n.105+1551C>T
ENST00000543874.2:n.96+1551C>T
NM_000217.2:c.645C>T NP_000208.2:p.Asn215=
NM_000217.3:c.645C>T MANE Select NP_000208.2:p.Asn215=
Search 100 bp 5'
Search 100 bp 3'