Canonical Allele Identifier: CA028802

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 263739
• ClinVar RCV Id: RCV001487899 ; RCV002494786
• dbSNP Id: rs754921704
• ExAC: 7:150671950 G / A
• gnomAD v2: 7-150671950-G-A
• gnomAD v3: 7-150974862-G-A
• gnomAD v4: 7-150974862-G-A
• MyVariant Identifiers: chr7:g.150671950G>A (hg19) ; chr7:g.150974862G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974862G>A , CM000669.2:g.150974862G>A	GRCh38
NC_000007.13:g.150671950G>A , CM000669.1:g.150671950G>A	GRCh37
NC_000007.12:g.150302883G>A	NCBI36
NG_008916.1:g.8065C>T , LRG_288:g.8065C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.156C>T MANE Select	ENSP00000262186.5:p.Cys52=
ENST00000262186.9:c.156C>T	ENSP00000262186.5:p.Cys52=
ENST00000430723.4:c.-22C>T	ENSP00000387657.4:n.-22C>T
ENST00000532957.5:n.379C>T
NM_000238.3:c.156C>T , LRG_288t1:c.156C>T	NP_000229.1:p.Cys52=
NM_172056.2:c.156C>T , LRG_288t2:c.156C>T	NP_742053.1:p.Cys52=
XM_011516186.1:c.156C>T	XP_011514488.1:p.Cys52=
XM_011516186.3:c.156C>T	XP_011514488.1:p.Cys52=
XM_017012196.1:c.-22C>T	XP_016867685.1:n.-22C>T
NM_000238.4:c.156C>T MANE Select	NP_000229.1:p.Cys52=