Canonical Allele Identifier: CA029620

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 413330
• ClinVar RCV Id: RCV000470569
• dbSNP Id: rs199473039
• ExAC: 7:150648600 G / A
• gnomAD v2: 7-150648600-G-A
• gnomAD v3: 7-150951512-G-A
• gnomAD v4: 7-150951512-G-A
• MyVariant Identifiers: chr7:g.150648600G>A (hg19) ; chr7:g.150951512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951512G>A , CM000669.2:g.150951512G>A	GRCh38
NC_000007.13:g.150648600G>A , CM000669.1:g.150648600G>A	GRCh37
NC_000007.12:g.150279533G>A	NCBI36
NG_008916.1:g.31415C>T , LRG_288:g.31415C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1179C>T
ENST00000683359.1:n.5C>T
ENST00000684241.1:n.2714C>T
ENST00000262186.10:c.1881C>T MANE Select	ENSP00000262186.5:p.Phe627=
ENST00000330883.9:c.861C>T	ENSP00000328531.4:p.Phe287=
ENST00000262186.9:c.1881C>T	ENSP00000262186.5:p.Phe627=
ENST00000330883.8:c.861C>T	ENSP00000328531.4:p.Phe287=
ENST00000430723.4:c.1533C>T	ENSP00000387657.4:p.Phe511=
ENST00000461280.1:n.1168C>T
ENST00000473610.5:n.1186C>T
ENST00000532957.5:n.2104C>T
NM_000238.3:c.1881C>T , LRG_288t1:c.1881C>T	NP_000229.1:p.Phe627=
NM_001204798.1:c.861C>T	NP_001191727.1:p.Phe287=
NM_172056.2:c.1881C>T , LRG_288t2:c.1881C>T	NP_742053.1:p.Phe627=
NM_172057.2:c.861C>T , LRG_288t3:c.861C>T	NP_742054.1:p.Phe287=
XM_011516185.1:c.1581C>T	XP_011514487.1:p.Phe527=
XM_011516186.1:c.1881C>T	XP_011514488.1:p.Phe627=
XM_011516185.2:c.1581C>T	XP_011514487.1:p.Phe527=
XM_011516186.3:c.1881C>T	XP_011514488.1:p.Phe627=
XM_017012195.1:c.1731C>T	XP_016867684.1:p.Phe577=
XM_017012196.1:c.1704C>T	XP_016867685.1:p.Phe568=
NM_000238.4:c.1881C>T MANE Select	NP_000229.1:p.Phe627=
NM_001204798.2:c.861C>T	NP_001191727.1:p.Phe287=
NM_172057.3:c.861C>T	NP_742054.1:p.Phe287=