Canonical Allele Identifier: CA1108704672

Gene: KCNH2

Linked Data

• dbSNP Id: rs1454818299
• gnomAD v3: 7-150958539-C-T
• gnomAD v4: 7-150958539-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958539C>T , CM000669.2:g.150958539C>T	GRCh38
NC_000007.13:g.150655627C>T , CM000669.1:g.150655627C>T	GRCh37
NC_000007.12:g.150286560C>T	NCBI36
NG_008916.1:g.24388G>A , LRG_288:g.24388G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1306-37G>A
ENST00000262186.10:c.473-37G>A MANE Select	ENSP00000262186.5:n.473-37G>A
ENST00000262186.9:c.473-37G>A	ENSP00000262186.5:n.473-37G>A
ENST00000430723.4:c.235-147G>A	ENSP00000387657.4:n.235-147G>A
ENST00000532957.5:n.696-37G>A
NM_000238.3:c.473-37G>A , LRG_288t1:c.473-37G>A	NP_000229.1:n.473-37G>A
NM_172056.2:c.473-37G>A , LRG_288t2:c.473-37G>A	NP_742053.1:n.473-37G>A
XM_011516185.1:c.173-37G>A	XP_011514487.1:n.173-37G>A
XM_011516186.1:c.473-37G>A	XP_011514488.1:n.473-37G>A
XM_011516185.2:c.173-37G>A	XP_011514487.1:n.173-37G>A
XM_011516186.3:c.473-37G>A	XP_011514488.1:n.473-37G>A
XM_017012195.1:c.323-37G>A	XP_016867684.1:n.323-37G>A
XM_017012196.1:c.296-37G>A	XP_016867685.1:n.296-37G>A
NM_000238.4:c.473-37G>A MANE Select	NP_000229.1:n.473-37G>A