Canonical Allele Identifier: CA026690

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 630575
• ClinVar RCV Id: RCV000810782 ; RCV001162644 ; RCV001712751 ; RCV001841972 ; RCV003307413
• dbSNP Id: rs576125279
• ExAC: 7:150654472 G / A
• gnomAD v2: 7-150654472-G-A
• gnomAD v3: 7-150957384-G-A
• gnomAD v4: 7-150957384-G-A
• COSMIC: COSM6229898 ; COSM6229899
• MyVariant Identifiers: chr7:g.150654472G>A (hg19) ; chr7:g.150957384G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957384G>A , CM000669.2:g.150957384G>A	GRCh38
NC_000007.13:g.150654472G>A , CM000669.1:g.150654472G>A	GRCh37
NC_000007.12:g.150285405G>A	NCBI36
NG_008916.1:g.25543C>T , LRG_288:g.25543C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1868C>T
ENST00000262186.10:c.1035C>T MANE Select	ENSP00000262186.5:p.Gly345=
ENST00000262186.9:c.1035C>T	ENSP00000262186.5:p.Gly345=
ENST00000430723.4:c.687C>T	ENSP00000387657.4:p.Gly229=
ENST00000532957.5:n.1258C>T
NM_000238.3:c.1035C>T , LRG_288t1:c.1035C>T	NP_000229.1:p.Gly345=
NM_172056.2:c.1035C>T , LRG_288t2:c.1035C>T	NP_742053.1:p.Gly345=
XM_011516185.1:c.735C>T	XP_011514487.1:p.Gly245=
XM_011516186.1:c.1035C>T	XP_011514488.1:p.Gly345=
XM_011516185.2:c.735C>T	XP_011514487.1:p.Gly245=
XM_011516186.3:c.1035C>T	XP_011514488.1:p.Gly345=
XM_017012195.1:c.885C>T	XP_016867684.1:p.Gly295=
XM_017012196.1:c.858C>T	XP_016867685.1:p.Gly286=
NM_000238.4:c.1035C>T MANE Select	NP_000229.1:p.Gly345=