Canonical Allele Identifier: CA944246519
Gene: KCNA1 HGNC NCBI

Linked Data

gnomAD v3: 12-4912618-T-TAA
gnomAD v4: 12-4912618-T-TAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912618_4912619insAA , CM000674.2:g.4912618_4912619insAA GRCh38
NC_000012.11:g.5021784_5021785insAA , CM000674.1:g.5021784_5021785insAA GRCh37
NC_000012.10:g.4892045_4892046insAA NCBI36
NG_011815.1:g.7712_7713insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1240_1241insAA MANE Select ENSP00000371985.3:p.Phe414Ter
ENST00000543874.3:n.105+2146_105+2147insAA
ENST00000639306.1:c.1078_1079insAA ENSP00000492506.1:p.Phe360Ter
ENST00000639680.1:c.76+352_76+353insAA
ENST00000382545.3:c.1240_1241insAA ENSP00000371985.3:p.Phe414Ter
ENST00000541095.1:n.105+2146_105+2147insAA
ENST00000543874.2:n.96+2146_96+2147insAA
NM_000217.2:c.1240_1241insAA NP_000208.2:p.Phe414Ter
NM_000217.3:c.1240_1241insAA MANE Select NP_000208.2:p.Phe414Ter
Search 100 bp 5'
Search 100 bp 3'