Canonical Allele Identifier: CA199821
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 191463
dbSNP Id: rs17215409
gnomAD v2: 12-5154232-C-T
gnomAD v3: 12-5045066-C-T
gnomAD v4: 12-5045066-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045066C>T , CM000674.2:g.5045066C>T GRCh38
NC_000012.11:g.5154232C>T , CM000674.1:g.5154232C>T GRCh37
NC_000012.10:g.5024493C>T NCBI36
NG_012198.1:g.6148C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.919C>T MANE Select ENSP00000252321.3:p.Pro307Ser
ENST00000252321.4:c.919C>T ENSP00000252321.3:p.Pro307Ser
NM_002234.3:c.919C>T NP_002225.2:p.Pro307Ser
NM_002234.4:c.919C>T MANE Select NP_002225.2:p.Pro307Ser