Canonical Allele Identifier: CA369862746

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1514209
• ClinVar RCV Id: RCV002048208 ; RCV002361400
• dbSNP Id: rs199473501
• gnomAD v4: 7-150958263-C-A
• MyVariant Identifiers: chr7:g.150655351C>A (hg19) ; chr7:g.150958263C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958263C>A , CM000669.2:g.150958263C>A	GRCh38
NC_000007.13:g.150655351C>A , CM000669.1:g.150655351C>A	GRCh37
NC_000007.12:g.150286284C>A	NCBI36
NG_008916.1:g.24664G>T , LRG_288:g.24664G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1545G>T
ENST00000262186.10:c.712G>T MANE Select	ENSP00000262186.5:p.Gly238Cys
ENST00000262186.9:c.712G>T	ENSP00000262186.5:p.Gly238Cys
ENST00000430723.4:c.364G>T	ENSP00000387657.4:p.Gly122Cys
ENST00000532957.5:n.935G>T
NM_000238.3:c.712G>T , LRG_288t1:c.712G>T	NP_000229.1:p.Gly238Cys
NM_172056.2:c.712G>T , LRG_288t2:c.712G>T	NP_742053.1:p.Gly238Cys
XM_011516185.1:c.412G>T	XP_011514487.1:p.Gly138Cys
XM_011516186.1:c.712G>T	XP_011514488.1:p.Gly238Cys
XM_011516185.2:c.412G>T	XP_011514487.1:p.Gly138Cys
XM_011516186.3:c.712G>T	XP_011514488.1:p.Gly238Cys
XM_017012195.1:c.562G>T	XP_016867684.1:p.Gly188Cys
XM_017012196.1:c.535G>T	XP_016867685.1:p.Gly179Cys
NM_000238.4:c.712G>T MANE Select	NP_000229.1:p.Gly238Cys