Canonical Allele Identifier: CA369863738

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150656732C>T (hg19) ; chr7:g.150959644C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1233G>A
ENST00000262186.10:c.400G>A MANE Select	ENSP00000262186.5:p.Glu134Lys
ENST00000262186.9:c.400G>A	ENSP00000262186.5:p.Glu134Lys
ENST00000430723.4:c.223G>A	ENSP00000387657.4:p.Glu75Lys
ENST00000532957.5:n.623G>A
NM_000238.3:c.400G>A , LRG_288t1:c.400G>A	NP_000229.1:p.Glu134Lys
NM_172056.2:c.400G>A , LRG_288t2:c.400G>A	NP_742053.1:p.Glu134Lys
XM_011516185.1:c.100G>A	XP_011514487.1:p.Glu34Lys
XM_011516186.1:c.400G>A	XP_011514488.1:p.Glu134Lys
XM_011516185.2:c.100G>A	XP_011514487.1:p.Glu34Lys
XM_011516186.3:c.400G>A	XP_011514488.1:p.Glu134Lys
XM_017012195.1:c.250G>A	XP_016867684.1:p.Glu84Lys
XM_017012196.1:c.223G>A	XP_016867685.1:p.Glu75Lys
NM_000238.4:c.400G>A MANE Select	NP_000229.1:p.Glu134Lys