Canonical Allele Identifier: CA6399704

Gene: KCNA5

Linked Data

• dbSNP Id: rs767170268
• ExAC: 12:5154041 C / T
• gnomAD v2: 12-5154041-C-T
• gnomAD v3: 12-5044875-C-T
• gnomAD v4: 12-5044875-C-T
• COSMIC: COSM4878062
• MyVariant Identifiers: chr12:g.5154041C>T (hg19) ; chr12:g.5044875C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044875C>T , CM000674.2:g.5044875C>T	GRCh38
NC_000012.11:g.5154041C>T , CM000674.1:g.5154041C>T	GRCh37
NC_000012.10:g.5024302C>T	NCBI36
NG_012198.1:g.5957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.728C>T MANE Select	ENSP00000252321.3:p.Pro243Leu
ENST00000252321.4:c.728C>T	ENSP00000252321.3:p.Pro243Leu
NM_002234.3:c.728C>T	NP_002225.2:p.Pro243Leu
NM_002234.4:c.728C>T MANE Select	NP_002225.2:p.Pro243Leu