Canonical Allele Identifier: CA369857777

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 427945
• ClinVar RCV Id: RCV000497898
• dbSNP Id: rs1554425569
• MyVariant Identifiers: chr7:g.150648202A>C (hg19) ; chr7:g.150951114A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951114A>C , CM000669.2:g.150951114A>C	GRCh38
NC_000007.13:g.150648202A>C , CM000669.1:g.150648202A>C	GRCh37
NC_000007.12:g.150279135A>C	NCBI36
NG_008916.1:g.31813T>G , LRG_288:g.31813T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1250T>G
ENST00000683359.1:n.76T>G
ENST00000684241.1:n.2785T>G
ENST00000262186.10:c.1952T>G MANE Select	ENSP00000262186.5:p.Met651Arg
ENST00000330883.9:c.932T>G	ENSP00000328531.4:p.Met311Arg
ENST00000262186.9:c.1952T>G	ENSP00000262186.5:p.Met651Arg
ENST00000330883.8:c.932T>G	ENSP00000328531.4:p.Met311Arg
ENST00000430723.4:c.1604T>G	ENSP00000387657.4:p.Met535Arg
ENST00000461280.1:n.1239T>G
ENST00000473610.5:n.1584T>G
ENST00000532957.5:n.2175T>G
NM_000238.3:c.1952T>G , LRG_288t1:c.1952T>G	NP_000229.1:p.Met651Arg
NM_001204798.1:c.932T>G	NP_001191727.1:p.Met311Arg
NM_172056.2:c.1952T>G , LRG_288t2:c.1952T>G	NP_742053.1:p.Met651Arg
NM_172057.2:c.932T>G , LRG_288t3:c.932T>G	NP_742054.1:p.Met311Arg
XM_011516185.1:c.1652T>G	XP_011514487.1:p.Met551Arg
XM_011516186.1:c.1952T>G	XP_011514488.1:p.Met651Arg
XM_011516185.2:c.1652T>G	XP_011514487.1:p.Met551Arg
XM_011516186.3:c.1952T>G	XP_011514488.1:p.Met651Arg
XM_017012195.1:c.1802T>G	XP_016867684.1:p.Met601Arg
XM_017012196.1:c.1775T>G	XP_016867685.1:p.Met592Arg
NM_000238.4:c.1952T>G MANE Select	NP_000229.1:p.Met651Arg
NM_001204798.2:c.932T>G	NP_001191727.1:p.Met311Arg
NM_172057.3:c.932T>G	NP_742054.1:p.Met311Arg