Canonical Allele Identifier: CA369863354

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958428-C-A
• MyVariant Identifiers: chr7:g.150655516C>A (hg19) ; chr7:g.150958428C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958428C>A , CM000669.2:g.150958428C>A	GRCh38
NC_000007.13:g.150655516C>A , CM000669.1:g.150655516C>A	GRCh37
NC_000007.12:g.150286449C>A	NCBI36
NG_008916.1:g.24499G>T , LRG_288:g.24499G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1380G>T
ENST00000262186.10:c.547G>T MANE Select	ENSP00000262186.5:p.Gly183Cys
ENST00000262186.9:c.547G>T	ENSP00000262186.5:p.Gly183Cys
ENST00000430723.4:c.235-36G>T	ENSP00000387657.4:n.235-36G>T
ENST00000532957.5:n.770G>T
NM_000238.3:c.547G>T , LRG_288t1:c.547G>T	NP_000229.1:p.Gly183Cys
NM_172056.2:c.547G>T , LRG_288t2:c.547G>T	NP_742053.1:p.Gly183Cys
XM_011516185.1:c.247G>T	XP_011514487.1:p.Gly83Cys
XM_011516186.1:c.547G>T	XP_011514488.1:p.Gly183Cys
XM_011516185.2:c.247G>T	XP_011514487.1:p.Gly83Cys
XM_011516186.3:c.547G>T	XP_011514488.1:p.Gly183Cys
XM_017012195.1:c.397G>T	XP_016867684.1:p.Gly133Cys
XM_017012196.1:c.370G>T	XP_016867685.1:p.Gly124Cys
NM_000238.4:c.547G>T MANE Select	NP_000229.1:p.Gly183Cys