Canonical Allele Identifier: CA1108708487

Gene: KCNH2

Linked Data

• dbSNP Id: rs746127862
• gnomAD v3: 7-150957285-G-T
• gnomAD v4: 7-150957285-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957285G>T , CM000669.2:g.150957285G>T	GRCh38
NC_000007.13:g.150654373G>T , CM000669.1:g.150654373G>T	GRCh37
NC_000007.12:g.150285306G>T	NCBI36
NG_008916.1:g.25642C>A , LRG_288:g.25642C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1961+6C>A
ENST00000262186.10:c.1128+6C>A MANE Select	ENSP00000262186.5:n.1128+6C>A
ENST00000262186.9:c.1128+6C>A	ENSP00000262186.5:n.1128+6C>A
ENST00000430723.4:c.780+6C>A	ENSP00000387657.4:n.780+6C>A
ENST00000532957.5:n.1351+6C>A
NM_000238.3:c.1128+6C>A , LRG_288t1:c.1128+6C>A	NP_000229.1:n.1128+6C>A
NM_172056.2:c.1128+6C>A , LRG_288t2:c.1128+6C>A	NP_742053.1:n.1128+6C>A
XM_011516185.1:c.828+6C>A	XP_011514487.1:n.828+6C>A
XM_011516186.1:c.1128+6C>A	XP_011514488.1:n.1128+6C>A
XM_011516185.2:c.828+6C>A	XP_011514487.1:n.828+6C>A
XM_011516186.3:c.1128+6C>A	XP_011514488.1:n.1128+6C>A
XM_017012195.1:c.978+6C>A	XP_016867684.1:n.978+6C>A
XM_017012196.1:c.951+6C>A	XP_016867685.1:n.951+6C>A
NM_000238.4:c.1128+6C>A MANE Select	NP_000229.1:n.1128+6C>A