Canonical Allele Identifier: CA383454365
Gene: KCNA1 HGNC NCBI

Linked Data

gnomAD v4: 12-4911732-G-C
MyVariant Identifiers: chr12:g.5020898G>C (hg19) chr12:g.4911732G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911732G>C , CM000674.2:g.4911732G>C GRCh38
NC_000012.11:g.5020898G>C , CM000674.1:g.5020898G>C GRCh37
NC_000012.10:g.4891159G>C NCBI36
NG_011815.1:g.6826G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.354G>C MANE Select ENSP00000371985.3:p.Lys118Asn
ENST00000543874.3:n.105+1260G>C
ENST00000639306.1:c.192G>C ENSP00000492506.1:p.Lys64Asn
ENST00000382545.3:c.354G>C ENSP00000371985.3:p.Lys118Asn
ENST00000541095.1:n.105+1260G>C
ENST00000543874.2:n.96+1260G>C
NM_000217.2:c.354G>C NP_000208.2:p.Lys118Asn
NM_000217.3:c.354G>C MANE Select NP_000208.2:p.Lys118Asn
Search 100 bp 5'
Search 100 bp 3'