Canonical Allele Identifier: CA007756

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200252
• ClinVar RCV Id: RCV000181739 ; RCV000545645 ; RCV002433791 ; RCV001842812
• dbSNP Id: rs368954514
• ExAC: 7:150644574 G / A
• gnomAD v2: 7-150644574-G-A
• gnomAD v3: 7-150947486-G-A
• gnomAD v4: 7-150947486-G-A
• MyVariant Identifiers: chr7:g.150644574G>A (hg19) ; chr7:g.150947486G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947486G>A , CM000669.2:g.150947486G>A	GRCh38
NC_000007.13:g.150644574G>A , CM000669.1:g.150644574G>A	GRCh37
NC_000007.12:g.150275507G>A	NCBI36
NG_008916.1:g.35441C>T , LRG_288:g.35441C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3827C>T
ENST00000262186.10:c.2994C>T MANE Select	ENSP00000262186.5:p.Phe998=
ENST00000330883.9:c.1974C>T	ENSP00000328531.4:p.Phe658=
ENST00000262186.9:c.2994C>T	ENSP00000262186.5:p.Phe998=
ENST00000330883.8:c.1974C>T	ENSP00000328531.4:p.Phe658=
NM_000238.3:c.2994C>T , LRG_288t1:c.2994C>T	NP_000229.1:p.Phe998=
NM_172057.2:c.1974C>T , LRG_288t3:c.1974C>T	NP_742054.1:p.Phe658=
XM_011516185.1:c.2694C>T	XP_011514487.1:p.Phe898=
XM_011516186.1:c.*74C>T	XP_011514488.1:n.*74C>T
XM_011516185.2:c.2694C>T	XP_011514487.1:p.Phe898=
XM_011516186.3:c.*74C>T	XP_011514488.1:n.*74C>T
XM_017012195.1:c.2844C>T	XP_016867684.1:p.Phe948=
XM_017012196.1:c.2817C>T	XP_016867685.1:p.Phe939=
NM_000238.4:c.2994C>T MANE Select	NP_000229.1:p.Phe998=
NM_172057.3:c.1974C>T	NP_742054.1:p.Phe658=