Canonical Allele Identifier: CA040725

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 919437
• ClinVar RCV Id: RCV001842697 ; RCV002068199
• dbSNP Id: rs767322698
• ExAC: 7:150654600 G / A
• gnomAD v2: 7-150654600-G-A
• gnomAD v3: 7-150957512-G-A
• gnomAD v4: 7-150957512-G-A
• MyVariant Identifiers: chr7:g.150654600G>A (hg19) ; chr7:g.150957512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957512G>A , CM000669.2:g.150957512G>A	GRCh38
NC_000007.13:g.150654600G>A , CM000669.1:g.150654600G>A	GRCh37
NC_000007.12:g.150285533G>A	NCBI36
NG_008916.1:g.25415C>T , LRG_288:g.25415C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1750-10C>T
ENST00000262186.10:c.917-10C>T MANE Select	ENSP00000262186.5:n.917-10C>T
ENST00000262186.9:c.917-10C>T	ENSP00000262186.5:n.917-10C>T
ENST00000430723.4:c.569-10C>T	ENSP00000387657.4:n.569-10C>T
ENST00000532957.5:n.1140-10C>T
NM_000238.3:c.917-10C>T , LRG_288t1:c.917-10C>T	NP_000229.1:n.917-10C>T
NM_172056.2:c.917-10C>T , LRG_288t2:c.917-10C>T	NP_742053.1:n.917-10C>T
XM_011516185.1:c.617-10C>T	XP_011514487.1:n.617-10C>T
XM_011516186.1:c.917-10C>T	XP_011514488.1:n.917-10C>T
XM_011516185.2:c.617-10C>T	XP_011514487.1:n.617-10C>T
XM_011516186.3:c.917-10C>T	XP_011514488.1:n.917-10C>T
XM_017012195.1:c.767-10C>T	XP_016867684.1:n.767-10C>T
XM_017012196.1:c.740-10C>T	XP_016867685.1:n.740-10C>T
NM_000238.4:c.917-10C>T MANE Select	NP_000229.1:n.917-10C>T