Canonical Allele Identifier: CA231866737

Gene: KCNA5

Linked Data

• ClinVar Variation Id: 1518431
• ClinVar RCV Id: RCV002043468 ; RCV002548904
• dbSNP Id: rs995191067
• gnomAD v2: 12-5153354-T-G
• gnomAD v3: 12-5044188-T-G
• gnomAD v4: 12-5044188-T-G
• MyVariant Identifiers: chr12:g.5153354T>G (hg19) ; chr12:g.5044188T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044188T>G , CM000674.2:g.5044188T>G	GRCh38
NC_000012.11:g.5153354T>G , CM000674.1:g.5153354T>G	GRCh37
NC_000012.10:g.5023615T>G	NCBI36
NG_012198.1:g.5270T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.41T>G MANE Select	ENSP00000252321.3:p.Met14Arg
ENST00000252321.4:c.41T>G	ENSP00000252321.3:p.Met14Arg
NM_002234.3:c.41T>G	NP_002225.2:p.Met14Arg
NM_002234.4:c.41T>G MANE Select	NP_002225.2:p.Met14Arg