Canonical Allele Identifier: CA369857887

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1054005
• ClinVar RCV Id: RCV001362441 ; RCV002413860
• dbSNP Id: rs199473527
• MyVariant Identifiers: chr7:g.150648587G>C (hg19) ; chr7:g.150951499G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951499G>C , CM000669.2:g.150951499G>C	GRCh38
NC_000007.13:g.150648587G>C , CM000669.1:g.150648587G>C	GRCh37
NC_000007.12:g.150279520G>C	NCBI36
NG_008916.1:g.31428C>G , LRG_288:g.31428C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1192C>G
ENST00000683359.1:n.18C>G
ENST00000684241.1:n.2727C>G
ENST00000262186.10:c.1894C>G MANE Select	ENSP00000262186.5:p.Pro632Ala
ENST00000330883.9:c.874C>G	ENSP00000328531.4:p.Pro292Ala
ENST00000262186.9:c.1894C>G	ENSP00000262186.5:p.Pro632Ala
ENST00000330883.8:c.874C>G	ENSP00000328531.4:p.Pro292Ala
ENST00000430723.4:c.1546C>G	ENSP00000387657.4:p.Pro516Ala
ENST00000461280.1:n.1181C>G
ENST00000473610.5:n.1199C>G
ENST00000532957.5:n.2117C>G
NM_000238.3:c.1894C>G , LRG_288t1:c.1894C>G	NP_000229.1:p.Pro632Ala
NM_001204798.1:c.874C>G	NP_001191727.1:p.Pro292Ala
NM_172056.2:c.1894C>G , LRG_288t2:c.1894C>G	NP_742053.1:p.Pro632Ala
NM_172057.2:c.874C>G , LRG_288t3:c.874C>G	NP_742054.1:p.Pro292Ala
XM_011516185.1:c.1594C>G	XP_011514487.1:p.Pro532Ala
XM_011516186.1:c.1894C>G	XP_011514488.1:p.Pro632Ala
XM_011516185.2:c.1594C>G	XP_011514487.1:p.Pro532Ala
XM_011516186.3:c.1894C>G	XP_011514488.1:p.Pro632Ala
XM_017012195.1:c.1744C>G	XP_016867684.1:p.Pro582Ala
XM_017012196.1:c.1717C>G	XP_016867685.1:p.Pro573Ala
NM_000238.4:c.1894C>G MANE Select	NP_000229.1:p.Pro632Ala
NM_001204798.2:c.874C>G	NP_001191727.1:p.Pro292Ala
NM_172057.3:c.874C>G	NP_742054.1:p.Pro292Ala