Canonical Allele Identifier: CA369859548

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 656162
• ClinVar RCV Id: RCV000812509
• dbSNP Id: rs794728371
• MyVariant Identifiers: chr7:g.150649551G>C (hg19) ; chr7:g.150952463G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952463G>C , CM000669.2:g.150952463G>C	GRCh38
NC_000007.13:g.150649551G>C , CM000669.1:g.150649551G>C	GRCh37
NC_000007.12:g.150280484G>C	NCBI36
NG_008916.1:g.30464C>G , LRG_288:g.30464C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.817C>G
ENST00000684116.1:n.412C>G
ENST00000684241.1:n.2352C>G
ENST00000262186.10:c.1519C>G MANE Select	ENSP00000262186.5:p.Pro507Ala
ENST00000330883.9:c.499C>G	ENSP00000328531.4:p.Pro167Ala
ENST00000262186.9:c.1519C>G	ENSP00000262186.5:p.Pro507Ala
ENST00000330883.8:c.499C>G	ENSP00000328531.4:p.Pro167Ala
ENST00000430723.4:c.1171C>G	ENSP00000387657.4:p.Pro391Ala
ENST00000461280.1:n.806C>G
ENST00000473610.5:n.824C>G
ENST00000532957.5:n.1742C>G
NM_000238.3:c.1519C>G , LRG_288t1:c.1519C>G	NP_000229.1:p.Pro507Ala
NM_001204798.1:c.499C>G	NP_001191727.1:p.Pro167Ala
NM_172056.2:c.1519C>G , LRG_288t2:c.1519C>G	NP_742053.1:p.Pro507Ala
NM_172057.2:c.499C>G , LRG_288t3:c.499C>G	NP_742054.1:p.Pro167Ala
XM_011516185.1:c.1219C>G	XP_011514487.1:p.Pro407Ala
XM_011516186.1:c.1519C>G	XP_011514488.1:p.Pro507Ala
XM_011516185.2:c.1219C>G	XP_011514487.1:p.Pro407Ala
XM_011516186.3:c.1519C>G	XP_011514488.1:p.Pro507Ala
XM_017012195.1:c.1369C>G	XP_016867684.1:p.Pro457Ala
XM_017012196.1:c.1342C>G	XP_016867685.1:p.Pro448Ala
NM_000238.4:c.1519C>G MANE Select	NP_000229.1:p.Pro507Ala
NM_001204798.2:c.499C>G	NP_001191727.1:p.Pro167Ala
NM_172057.3:c.499C>G	NP_742054.1:p.Pro167Ala