Canonical Allele Identifier: CA005495

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67275
• ClinVar RCV Id: RCV000057991
• dbSNP Id: rs199472933
• MyVariant Identifiers: chr7:g.150648694G>C (hg19) ; chr7:g.150951606G>C (hg38)
• PubMed: PMID:15840476 ; PMID:16432067 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951606G>C , CM000669.2:g.150951606G>C	GRCh38
NC_000007.13:g.150648694G>C , CM000669.1:g.150648694G>C	GRCh37
NC_000007.12:g.150279627G>C	NCBI36
NG_008916.1:g.31321C>G , LRG_288:g.31321C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1085C>G
ENST00000684241.1:n.2620C>G
ENST00000262186.10:c.1787C>G MANE Select	ENSP00000262186.5:p.Pro596Arg
ENST00000330883.9:c.767C>G	ENSP00000328531.4:p.Pro256Arg
ENST00000262186.9:c.1787C>G	ENSP00000262186.5:p.Pro596Arg
ENST00000330883.8:c.767C>G	ENSP00000328531.4:p.Pro256Arg
ENST00000430723.4:c.1439C>G	ENSP00000387657.4:p.Pro480Arg
ENST00000461280.1:n.1074C>G
ENST00000473610.5:n.1092C>G
ENST00000532957.5:n.2010C>G
NM_000238.3:c.1787C>G , LRG_288t1:c.1787C>G	NP_000229.1:p.Pro596Arg
NM_001204798.1:c.767C>G	NP_001191727.1:p.Pro256Arg
NM_172056.2:c.1787C>G , LRG_288t2:c.1787C>G	NP_742053.1:p.Pro596Arg
NM_172057.2:c.767C>G , LRG_288t3:c.767C>G	NP_742054.1:p.Pro256Arg
XM_011516185.1:c.1487C>G	XP_011514487.1:p.Pro496Arg
XM_011516186.1:c.1787C>G	XP_011514488.1:p.Pro596Arg
XM_011516185.2:c.1487C>G	XP_011514487.1:p.Pro496Arg
XM_011516186.3:c.1787C>G	XP_011514488.1:p.Pro596Arg
XM_017012195.1:c.1637C>G	XP_016867684.1:p.Pro546Arg
XM_017012196.1:c.1610C>G	XP_016867685.1:p.Pro537Arg
NM_000238.4:c.1787C>G MANE Select	NP_000229.1:p.Pro596Arg
NM_001204798.2:c.767C>G	NP_001191727.1:p.Pro256Arg
NM_172057.3:c.767C>G	NP_742054.1:p.Pro256Arg