Canonical Allele Identifier: CA1752417040

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1624973
• ClinVar RCV Id: RCV002106497
• dbSNP Id: rs1563168459

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957507G>A , CM000669.2:g.150957507G>A	GRCh38
NC_000007.13:g.150654595G>A , CM000669.1:g.150654595G>A	GRCh37
NC_000007.12:g.150285528G>A	NCBI36
NG_008916.1:g.25420C>T , LRG_288:g.25420C>T

Transcript Alleles

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