Canonical Allele Identifier: CA369862371

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958155-C-A
• MyVariant Identifiers: chr7:g.150655243C>A (hg19) ; chr7:g.150958155C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958155C>A , CM000669.2:g.150958155C>A	GRCh38
NC_000007.13:g.150655243C>A , CM000669.1:g.150655243C>A	GRCh37
NC_000007.12:g.150286176C>A	NCBI36
NG_008916.1:g.24772G>T , LRG_288:g.24772G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1653G>T
ENST00000262186.10:c.820G>T MANE Select	ENSP00000262186.5:p.Glu274Ter
ENST00000262186.9:c.820G>T	ENSP00000262186.5:p.Glu274Ter
ENST00000430723.4:c.472G>T	ENSP00000387657.4:p.Glu158Ter
ENST00000532957.5:n.1043G>T
NM_000238.3:c.820G>T , LRG_288t1:c.820G>T	NP_000229.1:p.Glu274Ter
NM_172056.2:c.820G>T , LRG_288t2:c.820G>T	NP_742053.1:p.Glu274Ter
XM_011516185.1:c.520G>T	XP_011514487.1:p.Glu174Ter
XM_011516186.1:c.820G>T	XP_011514488.1:p.Glu274Ter
XM_011516185.2:c.520G>T	XP_011514487.1:p.Glu174Ter
XM_011516186.3:c.820G>T	XP_011514488.1:p.Glu274Ter
XM_017012195.1:c.670G>T	XP_016867684.1:p.Glu224Ter
XM_017012196.1:c.643G>T	XP_016867685.1:p.Glu215Ter
NM_000238.4:c.820G>T MANE Select	NP_000229.1:p.Glu274Ter