Canonical Allele Identifier: CA6399792
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 469581
ClinVar RCV Id: RCV000532173
dbSNP Id: rs752143941
ExAC: 12:5154352 C / T
gnomAD v2: 12-5154352-C-T
gnomAD v3: 12-5045186-C-T
gnomAD v4: 12-5045186-C-T
MyVariant Identifiers: chr12:g.5154352C>T (hg19) chr12:g.5045186C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045186C>T , CM000674.2:g.5045186C>T GRCh38
NC_000012.11:g.5154352C>T , CM000674.1:g.5154352C>T GRCh37
NC_000012.10:g.5024613C>T NCBI36
NG_012198.1:g.6268C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1039C>T MANE Select ENSP00000252321.3:p.Pro347Ser
ENST00000252321.4:c.1039C>T ENSP00000252321.3:p.Pro347Ser
NM_002234.3:c.1039C>T NP_002225.2:p.Pro347Ser
NM_002234.4:c.1039C>T MANE Select NP_002225.2:p.Pro347Ser
Search 100 bp 5'
Search 100 bp 3'