Canonical Allele Identifier: CA369863357

Gene: KCNH2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1380G>A
ENST00000262186.10:c.547G>A MANE Select	ENSP00000262186.5:p.Gly183Ser
ENST00000262186.9:c.547G>A	ENSP00000262186.5:p.Gly183Ser
ENST00000430723.4:c.235-36G>A	ENSP00000387657.4:n.235-36G>A
ENST00000532957.5:n.770G>A
NM_000238.3:c.547G>A , LRG_288t1:c.547G>A	NP_000229.1:p.Gly183Ser
NM_172056.2:c.547G>A , LRG_288t2:c.547G>A	NP_742053.1:p.Gly183Ser
XM_011516185.1:c.247G>A	XP_011514487.1:p.Gly83Ser
XM_011516186.1:c.547G>A	XP_011514488.1:p.Gly183Ser
XM_011516185.2:c.247G>A	XP_011514487.1:p.Gly83Ser
XM_011516186.3:c.547G>A	XP_011514488.1:p.Gly183Ser
XM_017012195.1:c.397G>A	XP_016867684.1:p.Gly133Ser
XM_017012196.1:c.370G>A	XP_016867685.1:p.Gly124Ser
NM_000238.4:c.547G>A MANE Select	NP_000229.1:p.Gly183Ser