Canonical Allele Identifier: CA369862659

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1526102
• ClinVar RCV Id: RCV002052122
• dbSNP Id: rs1801446711
• MyVariant Identifiers: chr7:g.150655320A>C (hg19) ; chr7:g.150958232A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958232A>C , CM000669.2:g.150958232A>C	GRCh38
NC_000007.13:g.150655320A>C , CM000669.1:g.150655320A>C	GRCh37
NC_000007.12:g.150286253A>C	NCBI36
NG_008916.1:g.24695T>G , LRG_288:g.24695T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1576T>G
ENST00000262186.10:c.743T>G MANE Select	ENSP00000262186.5:p.Leu248Arg
ENST00000262186.9:c.743T>G	ENSP00000262186.5:p.Leu248Arg
ENST00000430723.4:c.395T>G	ENSP00000387657.4:p.Leu132Arg
ENST00000532957.5:n.966T>G
NM_000238.3:c.743T>G , LRG_288t1:c.743T>G	NP_000229.1:p.Leu248Arg
NM_172056.2:c.743T>G , LRG_288t2:c.743T>G	NP_742053.1:p.Leu248Arg
XM_011516185.1:c.443T>G	XP_011514487.1:p.Leu148Arg
XM_011516186.1:c.743T>G	XP_011514488.1:p.Leu248Arg
XM_011516185.2:c.443T>G	XP_011514487.1:p.Leu148Arg
XM_011516186.3:c.743T>G	XP_011514488.1:p.Leu248Arg
XM_017012195.1:c.593T>G	XP_016867684.1:p.Leu198Arg
XM_017012196.1:c.566T>G	XP_016867685.1:p.Leu189Arg
NM_000238.4:c.743T>G MANE Select	NP_000229.1:p.Leu248Arg