Canonical Allele Identifier: CA16612046

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 405338
• ClinVar RCV Id: RCV000469290 ; RCV002446782
• dbSNP Id: rs1060500659
• MyVariant Identifiers: chr7:g.150647342T>C (hg19) ; chr7:g.150950254T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950254T>C , CM000669.2:g.150950254T>C	GRCh38
NC_000007.13:g.150647342T>C , CM000669.1:g.150647342T>C	GRCh37
NC_000007.12:g.150278275T>C	NCBI36
NG_008916.1:g.32673A>G , LRG_288:g.32673A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1610A>G
ENST00000684241.1:n.3145A>G
ENST00000262186.10:c.2312A>G MANE Select	ENSP00000262186.5:p.His771Arg
ENST00000330883.9:c.1292A>G	ENSP00000328531.4:p.His431Arg
ENST00000262186.9:c.2312A>G	ENSP00000262186.5:p.His771Arg
ENST00000330883.8:c.1292A>G	ENSP00000328531.4:p.His431Arg
ENST00000430723.4:c.1964A>G	ENSP00000387657.4:p.His655Arg
ENST00000461280.1:n.1599A>G
ENST00000473610.5:n.1944A>G
ENST00000532957.5:n.2535A>G
NM_000238.3:c.2312A>G , LRG_288t1:c.2312A>G	NP_000229.1:p.His771Arg
NM_001204798.1:c.1292A>G	NP_001191727.1:p.His431Arg
NM_172056.2:c.2312A>G , LRG_288t2:c.2312A>G	NP_742053.1:p.His771Arg
NM_172057.2:c.1292A>G , LRG_288t3:c.1292A>G	NP_742054.1:p.His431Arg
XM_011516185.1:c.2012A>G	XP_011514487.1:p.His671Arg
XM_011516186.1:c.2312A>G	XP_011514488.1:p.His771Arg
XM_011516185.2:c.2012A>G	XP_011514487.1:p.His671Arg
XM_011516186.3:c.2312A>G	XP_011514488.1:p.His771Arg
XM_017012195.1:c.2162A>G	XP_016867684.1:p.His721Arg
XM_017012196.1:c.2135A>G	XP_016867685.1:p.His712Arg
NM_000238.4:c.2312A>G MANE Select	NP_000229.1:p.His771Arg
NM_001204798.2:c.1292A>G	NP_001191727.1:p.His431Arg
NM_172057.3:c.1292A>G	NP_742054.1:p.His431Arg