Canonical Allele Identifier: CA369863736

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1683770
• ClinVar RCV Id: RCV002244291
• dbSNP Id: rs2117011952
• MyVariant Identifiers: chr7:g.150656732C>A (hg19) ; chr7:g.150959644C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959644C>A , CM000669.2:g.150959644C>A	GRCh38
NC_000007.13:g.150656732C>A , CM000669.1:g.150656732C>A	GRCh37
NC_000007.12:g.150287665C>A	NCBI36
NG_008916.1:g.23283G>T , LRG_288:g.23283G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1233G>T
ENST00000262186.10:c.400G>T MANE Select	ENSP00000262186.5:p.Glu134Ter
ENST00000262186.9:c.400G>T	ENSP00000262186.5:p.Glu134Ter
ENST00000430723.4:c.223G>T	ENSP00000387657.4:p.Glu75Ter
ENST00000532957.5:n.623G>T
NM_000238.3:c.400G>T , LRG_288t1:c.400G>T	NP_000229.1:p.Glu134Ter
NM_172056.2:c.400G>T , LRG_288t2:c.400G>T	NP_742053.1:p.Glu134Ter
XM_011516185.1:c.100G>T	XP_011514487.1:p.Glu34Ter
XM_011516186.1:c.400G>T	XP_011514488.1:p.Glu134Ter
XM_011516185.2:c.100G>T	XP_011514487.1:p.Glu34Ter
XM_011516186.3:c.400G>T	XP_011514488.1:p.Glu134Ter
XM_017012195.1:c.250G>T	XP_016867684.1:p.Glu84Ter
XM_017012196.1:c.223G>T	XP_016867685.1:p.Glu75Ter
NM_000238.4:c.400G>T MANE Select	NP_000229.1:p.Glu134Ter