Canonical Allele Identifier: CA338375

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 215663
• ClinVar RCV Id: RCV001437630 ; RCV001842948
• dbSNP Id: rs863224336
• gnomAD v3: 7-150977887-C-A
• gnomAD v4: 7-150977887-C-A
• MyVariant Identifiers: chr7:g.150674975C>A (hg19) ; chr7:g.150977887C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977887C>A , CM000669.2:g.150977887C>A	GRCh38
NC_000007.13:g.150674975C>A , CM000669.1:g.150674975C>A	GRCh37
NC_000007.12:g.150305908C>A	NCBI36
NG_008916.1:g.5040G>T , LRG_288:g.5040G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.27G>T MANE Select	ENSP00000262186.5:p.Ala9=
ENST00000262186.9:c.27G>T	ENSP00000262186.5:p.Ala9=
ENST00000430723.4:c.-151G>T	ENSP00000387657.4:n.-151G>T
ENST00000532957.5:n.250G>T
NM_000238.3:c.27G>T , LRG_288t1:c.27G>T	NP_000229.1:p.Ala9=
NM_172056.2:c.27G>T , LRG_288t2:c.27G>T	NP_742053.1:p.Ala9=
XM_011516186.1:c.27G>T	XP_011514488.1:p.Ala9=
XM_011516186.3:c.27G>T	XP_011514488.1:p.Ala9=
NM_000238.4:c.27G>T MANE Select	NP_000229.1:p.Ala9=