Canonical Allele Identifier: CA6399716
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1080505
ClinVar RCV Id: RCV001396148
dbSNP Id: rs777853815
ExAC: 12:5154108 C / T
gnomAD v2: 12-5154108-C-T
gnomAD v3: 12-5044942-C-T
gnomAD v4: 12-5044942-C-T
MyVariant Identifiers: chr12:g.5154108C>T (hg19) chr12:g.5044942C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044942C>T , CM000674.2:g.5044942C>T GRCh38
NC_000012.11:g.5154108C>T , CM000674.1:g.5154108C>T GRCh37
NC_000012.10:g.5024369C>T NCBI36
NG_012198.1:g.6024C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.795C>T MANE Select ENSP00000252321.3:p.Ile265=
ENST00000252321.4:c.795C>T ENSP00000252321.3:p.Ile265=
NM_002234.3:c.795C>T NP_002225.2:p.Ile265=
NM_002234.4:c.795C>T MANE Select NP_002225.2:p.Ile265=
Search 100 bp 5'
Search 100 bp 3'