Canonical Allele Identifier: CA369861887

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654568G>T (hg19) ; chr7:g.150957480G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957480G>T , CM000669.2:g.150957480G>T	GRCh38
NC_000007.13:g.150654568G>T , CM000669.1:g.150654568G>T	GRCh37
NC_000007.12:g.150285501G>T	NCBI36
NG_008916.1:g.25447C>A , LRG_288:g.25447C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1772C>A
ENST00000262186.10:c.939C>A MANE Select	ENSP00000262186.5:p.Ser313Arg
ENST00000262186.9:c.939C>A	ENSP00000262186.5:p.Ser313Arg
ENST00000430723.4:c.591C>A	ENSP00000387657.4:p.Ser197Arg
ENST00000532957.5:n.1162C>A
NM_000238.3:c.939C>A , LRG_288t1:c.939C>A	NP_000229.1:p.Ser313Arg
NM_172056.2:c.939C>A , LRG_288t2:c.939C>A	NP_742053.1:p.Ser313Arg
XM_011516185.1:c.639C>A	XP_011514487.1:p.Ser213Arg
XM_011516186.1:c.939C>A	XP_011514488.1:p.Ser313Arg
XM_011516185.2:c.639C>A	XP_011514487.1:p.Ser213Arg
XM_011516186.3:c.939C>A	XP_011514488.1:p.Ser313Arg
XM_017012195.1:c.789C>A	XP_016867684.1:p.Ser263Arg
XM_017012196.1:c.762C>A	XP_016867685.1:p.Ser254Arg
NM_000238.4:c.939C>A MANE Select	NP_000229.1:p.Ser313Arg