Canonical Allele Identifier: CA040219

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1088029
• ClinVar RCV Id: RCV002377624
• dbSNP Id: rs760401552
• ExAC: 7:150655388 G / A
• gnomAD v2: 7-150655388-G-A
• gnomAD v3: 7-150958300-G-A
• gnomAD v4: 7-150958300-G-A
• MyVariant Identifiers: chr7:g.150655388G>A (hg19) ; chr7:g.150958300G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958300G>A , CM000669.2:g.150958300G>A	GRCh38
NC_000007.13:g.150655388G>A , CM000669.1:g.150655388G>A	GRCh37
NC_000007.12:g.150286321G>A	NCBI36
NG_008916.1:g.24627C>T , LRG_288:g.24627C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1508C>T
ENST00000262186.10:c.675C>T MANE Select	ENSP00000262186.5:p.Leu225=
ENST00000262186.9:c.675C>T	ENSP00000262186.5:p.Leu225=
ENST00000430723.4:c.327C>T	ENSP00000387657.4:p.Leu109=
ENST00000532957.5:n.898C>T
NM_000238.3:c.675C>T , LRG_288t1:c.675C>T	NP_000229.1:p.Leu225=
NM_172056.2:c.675C>T , LRG_288t2:c.675C>T	NP_742053.1:p.Leu225=
XM_011516185.1:c.375C>T	XP_011514487.1:p.Leu125=
XM_011516186.1:c.675C>T	XP_011514488.1:p.Leu225=
XM_011516185.2:c.375C>T	XP_011514487.1:p.Leu125=
XM_011516186.3:c.675C>T	XP_011514488.1:p.Leu225=
XM_017012195.1:c.525C>T	XP_016867684.1:p.Leu175=
XM_017012196.1:c.498C>T	XP_016867685.1:p.Leu166=
NM_000238.4:c.675C>T MANE Select	NP_000229.1:p.Leu225=