Canonical Allele Identifier: CA383462137
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1061754
ClinVar RCV Id: RCV001371395
dbSNP Id: rs1389494243
gnomAD v2: 12-5153540-G-T
gnomAD v3: 12-5044374-G-T
gnomAD v4: 12-5044374-G-T
MyVariant Identifiers: chr12:g.5153540G>T (hg19) chr12:g.5044374G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044374G>T , CM000674.2:g.5044374G>T GRCh38
NC_000012.11:g.5153540G>T , CM000674.1:g.5153540G>T GRCh37
NC_000012.10:g.5023801G>T NCBI36
NG_012198.1:g.5456G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.227G>T MANE Select ENSP00000252321.3:p.Arg76Leu
ENST00000252321.4:c.227G>T ENSP00000252321.3:p.Arg76Leu
NM_002234.3:c.227G>T NP_002225.2:p.Arg76Leu
NM_002234.4:c.227G>T MANE Select NP_002225.2:p.Arg76Leu
Search 100 bp 5'
Search 100 bp 3'