Canonical Allele Identifier: CA383464791

Gene: KCNA5

Linked Data

• dbSNP Id: rs758189575
• gnomAD v2: 12-5153925-G-C
• gnomAD v4: 12-5044759-G-C
• MyVariant Identifiers: chr12:g.5153925G>C (hg19) ; chr12:g.5044759G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044759G>C , CM000674.2:g.5044759G>C	GRCh38
NC_000012.11:g.5153925G>C , CM000674.1:g.5153925G>C	GRCh37
NC_000012.10:g.5024186G>C	NCBI36
NG_012198.1:g.5841G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.612G>C MANE Select	ENSP00000252321.3:p.Gln204His
ENST00000252321.4:c.612G>C	ENSP00000252321.3:p.Gln204His
NM_002234.3:c.612G>C	NP_002225.2:p.Gln204His
NM_002234.4:c.612G>C MANE Select	NP_002225.2:p.Gln204His