Canonical Allele Identifier: CA6399898
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 469586
ClinVar RCV Id: RCV000560781 RCV001591249
dbSNP Id: rs17221812
ExAC: 12:5154908 C / T
gnomAD v2: 12-5154908-C-T
gnomAD v3: 12-5045742-C-T
gnomAD v4: 12-5045742-C-T
MyVariant Identifiers: chr12:g.5154908C>T (hg19) chr12:g.5045742C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045742C>T , CM000674.2:g.5045742C>T GRCh38
NC_000012.11:g.5154908C>T , CM000674.1:g.5154908C>T GRCh37
NC_000012.10:g.5025169C>T NCBI36
NG_012198.1:g.6824C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1595C>T MANE Select ENSP00000252321.3:p.Pro532Leu
ENST00000252321.4:c.1595C>T ENSP00000252321.3:p.Pro532Leu
NM_002234.3:c.1595C>T NP_002225.2:p.Pro532Leu
NM_002234.4:c.1595C>T MANE Select NP_002225.2:p.Pro532Leu
Search 100 bp 5'
Search 100 bp 3'