Canonical Allele Identifier: CA689648033
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs984992757
gnomAD v3: 12-5046065-C-T
gnomAD v4: 12-5046065-C-T
MyVariant Identifiers: chr12:g.5155231C>T (hg19) chr12:g.5046065C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5046065C>T , CM000674.2:g.5046065C>T GRCh38
NC_000012.11:g.5155231C>T , CM000674.1:g.5155231C>T GRCh37
NC_000012.10:g.5025492C>T NCBI36
NG_012198.1:g.7147C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.*76C>T MANE Select ENSP00000252321.3:n.*76C>T
ENST00000252321.4:c.*76C>T ENSP00000252321.3:n.*76C>T
NM_002234.3:c.*76C>T NP_002225.2:n.*76C>T
NM_002234.4:c.*76C>T MANE Select NP_002225.2:n.*76C>T
Search 100 bp 5'
Search 100 bp 3'