Canonical Allele Identifier: CA6399833
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs755261035
ExAC: 12:5154553 T / C
gnomAD v2: 12-5154553-T-C
gnomAD v4: 12-5045387-T-C
MyVariant Identifiers: chr12:g.5154553T>C (hg19) chr12:g.5045387T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045387T>C , CM000674.2:g.5045387T>C GRCh38
NC_000012.11:g.5154553T>C , CM000674.1:g.5154553T>C GRCh37
NC_000012.10:g.5024814T>C NCBI36
NG_012198.1:g.6469T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1240T>C MANE Select ENSP00000252321.3:p.Ser414Pro
ENST00000252321.4:c.1240T>C ENSP00000252321.3:p.Ser414Pro
NM_002234.3:c.1240T>C NP_002225.2:p.Ser414Pro
NM_002234.4:c.1240T>C MANE Select NP_002225.2:p.Ser414Pro
Search 100 bp 5'
Search 100 bp 3'