Canonical Allele Identifier: CA369853570

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1006883
• ClinVar RCV Id: RCV001303995 ; RCV002504458
• dbSNP Id: rs1480554629
• gnomAD v3: 7-150947875-G-T
• gnomAD v4: 7-150947875-G-T
• MyVariant Identifiers: chr7:g.150644963G>T (hg19) ; chr7:g.150947875G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947875G>T , CM000669.2:g.150947875G>T	GRCh38
NC_000007.13:g.150644963G>T , CM000669.1:g.150644963G>T	GRCh37
NC_000007.12:g.150275896G>T	NCBI36
NG_008916.1:g.35052C>A , LRG_288:g.35052C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3529C>A
ENST00000262186.10:c.2696C>A MANE Select	ENSP00000262186.5:p.Thr899Lys
ENST00000330883.9:c.1676C>A	ENSP00000328531.4:p.Thr559Lys
ENST00000262186.9:c.2696C>A	ENSP00000262186.5:p.Thr899Lys
ENST00000330883.8:c.1676C>A	ENSP00000328531.4:p.Thr559Lys
NM_000238.3:c.2696C>A , LRG_288t1:c.2696C>A	NP_000229.1:p.Thr899Lys
NM_172057.2:c.1676C>A , LRG_288t3:c.1676C>A	NP_742054.1:p.Thr559Lys
XM_011516185.1:c.2396C>A	XP_011514487.1:p.Thr799Lys
XM_011516186.1:c.2693-184C>A	XP_011514488.1:n.2693-184C>A
XM_011516185.2:c.2396C>A	XP_011514487.1:p.Thr799Lys
XM_011516186.3:c.2693-184C>A	XP_011514488.1:n.2693-184C>A
XM_017012195.1:c.2546C>A	XP_016867684.1:p.Thr849Lys
XM_017012196.1:c.2519C>A	XP_016867685.1:p.Thr840Lys
NM_000238.4:c.2696C>A MANE Select	NP_000229.1:p.Thr899Lys
NM_172057.3:c.1676C>A	NP_742054.1:p.Thr559Lys