Canonical Allele Identifier: CA369857917

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 644725
• ClinVar RCV Id: RCV000798705
• dbSNP Id: rs1584853632
• MyVariant Identifiers: chr7:g.150648611T>A (hg19) ; chr7:g.150951523T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951523T>A , CM000669.2:g.150951523T>A	GRCh38
NC_000007.13:g.150648611T>A , CM000669.1:g.150648611T>A	GRCh37
NC_000007.12:g.150279544T>A	NCBI36
NG_008916.1:g.31404A>T , LRG_288:g.31404A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1168A>T
ENST00000684241.1:n.2703A>T
ENST00000262186.10:c.1870A>T MANE Select	ENSP00000262186.5:p.Ser624Cys
ENST00000330883.9:c.850A>T	ENSP00000328531.4:p.Ser284Cys
ENST00000262186.9:c.1870A>T	ENSP00000262186.5:p.Ser624Cys
ENST00000330883.8:c.850A>T	ENSP00000328531.4:p.Ser284Cys
ENST00000430723.4:c.1522A>T	ENSP00000387657.4:p.Ser508Cys
ENST00000461280.1:n.1157A>T
ENST00000473610.5:n.1175A>T
ENST00000532957.5:n.2093A>T
NM_000238.3:c.1870A>T , LRG_288t1:c.1870A>T	NP_000229.1:p.Ser624Cys
NM_001204798.1:c.850A>T	NP_001191727.1:p.Ser284Cys
NM_172056.2:c.1870A>T , LRG_288t2:c.1870A>T	NP_742053.1:p.Ser624Cys
NM_172057.2:c.850A>T , LRG_288t3:c.850A>T	NP_742054.1:p.Ser284Cys
XM_011516185.1:c.1570A>T	XP_011514487.1:p.Ser524Cys
XM_011516186.1:c.1870A>T	XP_011514488.1:p.Ser624Cys
XM_011516185.2:c.1570A>T	XP_011514487.1:p.Ser524Cys
XM_011516186.3:c.1870A>T	XP_011514488.1:p.Ser624Cys
XM_017012195.1:c.1720A>T	XP_016867684.1:p.Ser574Cys
XM_017012196.1:c.1693A>T	XP_016867685.1:p.Ser565Cys
NM_000238.4:c.1870A>T MANE Select	NP_000229.1:p.Ser624Cys
NM_001204798.2:c.850A>T	NP_001191727.1:p.Ser284Cys
NM_172057.3:c.850A>T	NP_742054.1:p.Ser284Cys