Canonical Allele Identifier: CA369862687

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 969507
• ClinVar RCV Id: RCV001244870 ; RCV004034805
• dbSNP Id: rs748762712
• gnomAD v2: 7-150655332-G-T
• gnomAD v3: 7-150958244-G-T
• gnomAD v4: 7-150958244-G-T
• MyVariant Identifiers: chr7:g.150655332G>T (hg19) ; chr7:g.150958244G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958244G>T , CM000669.2:g.150958244G>T	GRCh38
NC_000007.13:g.150655332G>T , CM000669.1:g.150655332G>T	GRCh37
NC_000007.12:g.150286265G>T	NCBI36
NG_008916.1:g.24683C>A , LRG_288:g.24683C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1564C>A
ENST00000262186.10:c.731C>A MANE Select	ENSP00000262186.5:p.Ala244Glu
ENST00000262186.9:c.731C>A	ENSP00000262186.5:p.Ala244Glu
ENST00000430723.4:c.383C>A	ENSP00000387657.4:p.Ala128Glu
ENST00000532957.5:n.954C>A
NM_000238.3:c.731C>A , LRG_288t1:c.731C>A	NP_000229.1:p.Ala244Glu
NM_172056.2:c.731C>A , LRG_288t2:c.731C>A	NP_742053.1:p.Ala244Glu
XM_011516185.1:c.431C>A	XP_011514487.1:p.Ala144Glu
XM_011516186.1:c.731C>A	XP_011514488.1:p.Ala244Glu
XM_011516185.2:c.431C>A	XP_011514487.1:p.Ala144Glu
XM_011516186.3:c.731C>A	XP_011514488.1:p.Ala244Glu
XM_017012195.1:c.581C>A	XP_016867684.1:p.Ala194Glu
XM_017012196.1:c.554C>A	XP_016867685.1:p.Ala185Glu
NM_000238.4:c.731C>A MANE Select	NP_000229.1:p.Ala244Glu