Canonical Allele Identifier: CA383464954
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1042694
ClinVar RCV Id: RCV001346689
dbSNP Id: rs1431311668
MyVariant Identifiers: chr12:g.5154002A>G (hg19) chr12:g.5044836A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044836A>G , CM000674.2:g.5044836A>G GRCh38
NC_000012.11:g.5154002A>G , CM000674.1:g.5154002A>G GRCh37
NC_000012.10:g.5024263A>G NCBI36
NG_012198.1:g.5918A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.689A>G MANE Select ENSP00000252321.3:p.Asn230Ser
ENST00000252321.4:c.689A>G ENSP00000252321.3:p.Asn230Ser
NM_002234.3:c.689A>G NP_002225.2:p.Asn230Ser
NM_002234.4:c.689A>G MANE Select NP_002225.2:p.Asn230Ser
Search 100 bp 5'
Search 100 bp 3'