Canonical Allele Identifier: CA603482583

Gene: KCNA5

Linked Data

• dbSNP Id: rs1212148016
• gnomAD v2: 12-5153306-C-T
• gnomAD v4: 12-5044140-C-T
• MyVariant Identifiers: chr12:g.5153306C>T (hg19) ; chr12:g.5044140C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044140C>T , CM000674.2:g.5044140C>T	GRCh38
NC_000012.11:g.5153306C>T , CM000674.1:g.5153306C>T	GRCh37
NC_000012.10:g.5023567C>T	NCBI36
NG_012198.1:g.5222C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252321.5:c.-8C>T MANE Select	ENSP00000252321.3:n.-8C>T
ENST00000252321.4:c.-8C>T	ENSP00000252321.3:n.-8C>T
NM_002234.3:c.-8C>T	NP_002225.2:n.-8C>T
NM_002234.4:c.-8C>T MANE Select	NP_002225.2:n.-8C>T