Canonical Allele Identifier: CA005628

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67290
• ClinVar RCV Id: RCV000058007 ; RCV000190215
• dbSNP Id: rs199472942
• MyVariant Identifiers: chr7:g.150648650A>C (hg19) ; chr7:g.150951562A>C (hg38)
• PubMed: PMID:20541041 ; PMID:22581653 ; PMID:26132555

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951562A>C , CM000669.2:g.150951562A>C	GRCh38
NC_000007.13:g.150648650A>C , CM000669.1:g.150648650A>C	GRCh37
NC_000007.12:g.150279583A>C	NCBI36
NG_008916.1:g.31365T>G , LRG_288:g.31365T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1129T>G
ENST00000684241.1:n.2664T>G
ENST00000262186.10:c.1831T>G MANE Select	ENSP00000262186.5:p.Tyr611Asp
ENST00000330883.9:c.811T>G	ENSP00000328531.4:p.Tyr271Asp
ENST00000262186.9:c.1831T>G	ENSP00000262186.5:p.Tyr611Asp
ENST00000330883.8:c.811T>G	ENSP00000328531.4:p.Tyr271Asp
ENST00000430723.4:c.1483T>G	ENSP00000387657.4:p.Tyr495Asp
ENST00000461280.1:n.1118T>G
ENST00000473610.5:n.1136T>G
ENST00000532957.5:n.2054T>G
NM_000238.3:c.1831T>G , LRG_288t1:c.1831T>G	NP_000229.1:p.Tyr611Asp
NM_001204798.1:c.811T>G	NP_001191727.1:p.Tyr271Asp
NM_172056.2:c.1831T>G , LRG_288t2:c.1831T>G	NP_742053.1:p.Tyr611Asp
NM_172057.2:c.811T>G , LRG_288t3:c.811T>G	NP_742054.1:p.Tyr271Asp
XM_011516185.1:c.1531T>G	XP_011514487.1:p.Tyr511Asp
XM_011516186.1:c.1831T>G	XP_011514488.1:p.Tyr611Asp
XM_011516185.2:c.1531T>G	XP_011514487.1:p.Tyr511Asp
XM_011516186.3:c.1831T>G	XP_011514488.1:p.Tyr611Asp
XM_017012195.1:c.1681T>G	XP_016867684.1:p.Tyr561Asp
XM_017012196.1:c.1654T>G	XP_016867685.1:p.Tyr552Asp
NM_000238.4:c.1831T>G MANE Select	NP_000229.1:p.Tyr611Asp
NM_001204798.2:c.811T>G	NP_001191727.1:p.Tyr271Asp
NM_172057.3:c.811T>G	NP_742054.1:p.Tyr271Asp