Canonical Allele Identifier: CA369866762

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 3071732
• ClinVar RCV Id: RCV004016226
• gnomAD v4: 7-150977897-C-T
• MyVariant Identifiers: chr7:g.150674985C>T (hg19) ; chr7:g.150977897C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977897C>T , CM000669.2:g.150977897C>T	GRCh38
NC_000007.13:g.150674985C>T , CM000669.1:g.150674985C>T	GRCh37
NC_000007.12:g.150305918C>T	NCBI36
NG_008916.1:g.5030G>A , LRG_288:g.5030G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.17G>A MANE Select	ENSP00000262186.5:p.Gly6Asp
ENST00000262186.9:c.17G>A	ENSP00000262186.5:p.Gly6Asp
ENST00000430723.4:c.-161G>A	ENSP00000387657.4:n.-161G>A
ENST00000532957.5:n.240G>A
NM_000238.3:c.17G>A , LRG_288t1:c.17G>A	NP_000229.1:p.Gly6Asp
NM_172056.2:c.17G>A , LRG_288t2:c.17G>A	NP_742053.1:p.Gly6Asp
XM_011516186.1:c.17G>A	XP_011514488.1:p.Gly6Asp
XM_011516186.3:c.17G>A	XP_011514488.1:p.Gly6Asp
NM_000238.4:c.17G>A MANE Select	NP_000229.1:p.Gly6Asp