Canonical Allele Identifier: CA005887

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67320
• ClinVar RCV Id: RCV000058039
• dbSNP Id: rs199472959
• MyVariant Identifiers: chr7:g.150648590A>C (hg19) ; chr7:g.150951502A>C (hg38)
• PubMed: PMID:8799887 ; PMID:10508236 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951502A>C , CM000669.2:g.150951502A>C	GRCh38
NC_000007.13:g.150648590A>C , CM000669.1:g.150648590A>C	GRCh37
NC_000007.12:g.150279523A>C	NCBI36
NG_008916.1:g.31425T>G , LRG_288:g.31425T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1189T>G
ENST00000683359.1:n.15T>G
ENST00000684241.1:n.2724T>G
ENST00000262186.10:c.1891T>G MANE Select	ENSP00000262186.5:p.Ser631Ala
ENST00000330883.9:c.871T>G	ENSP00000328531.4:p.Ser291Ala
ENST00000262186.9:c.1891T>G	ENSP00000262186.5:p.Ser631Ala
ENST00000330883.8:c.871T>G	ENSP00000328531.4:p.Ser291Ala
ENST00000430723.4:c.1543T>G	ENSP00000387657.4:p.Ser515Ala
ENST00000461280.1:n.1178T>G
ENST00000473610.5:n.1196T>G
ENST00000532957.5:n.2114T>G
NM_000238.3:c.1891T>G , LRG_288t1:c.1891T>G	NP_000229.1:p.Ser631Ala
NM_001204798.1:c.871T>G	NP_001191727.1:p.Ser291Ala
NM_172056.2:c.1891T>G , LRG_288t2:c.1891T>G	NP_742053.1:p.Ser631Ala
NM_172057.2:c.871T>G , LRG_288t3:c.871T>G	NP_742054.1:p.Ser291Ala
XM_011516185.1:c.1591T>G	XP_011514487.1:p.Ser531Ala
XM_011516186.1:c.1891T>G	XP_011514488.1:p.Ser631Ala
XM_011516185.2:c.1591T>G	XP_011514487.1:p.Ser531Ala
XM_011516186.3:c.1891T>G	XP_011514488.1:p.Ser631Ala
XM_017012195.1:c.1741T>G	XP_016867684.1:p.Ser581Ala
XM_017012196.1:c.1714T>G	XP_016867685.1:p.Ser572Ala
NM_000238.4:c.1891T>G MANE Select	NP_000229.1:p.Ser631Ala
NM_001204798.2:c.871T>G	NP_001191727.1:p.Ser291Ala
NM_172057.3:c.871T>G	NP_742054.1:p.Ser291Ala