Canonical Allele Identifier: CA1108705806

Gene: KCNH2

Linked Data

• dbSNP Id: rs1360459932
• gnomAD v3: 7-150950554-G-T
• gnomAD v4: 7-150950554-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950554G>T , CM000669.2:g.150950554G>T	GRCh38
NC_000007.13:g.150647642G>T , CM000669.1:g.150647642G>T	GRCh37
NC_000007.12:g.150278575G>T	NCBI36
NG_008916.1:g.32373C>A , LRG_288:g.32373C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1444-134C>A
ENST00000684241.1:n.2979-134C>A
ENST00000262186.10:c.2146-134C>A MANE Select	ENSP00000262186.5:n.2146-134C>A
ENST00000330883.9:c.1126-134C>A	ENSP00000328531.4:n.1126-134C>A
ENST00000262186.9:c.2146-134C>A	ENSP00000262186.5:n.2146-134C>A
ENST00000330883.8:c.1126-134C>A	ENSP00000328531.4:n.1126-134C>A
ENST00000430723.4:c.1798-134C>A	ENSP00000387657.4:n.1798-134C>A
ENST00000461280.1:n.1433-134C>A
ENST00000473610.5:n.1778-134C>A
ENST00000532957.5:n.2369-134C>A
NM_000238.3:c.2146-134C>A , LRG_288t1:c.2146-134C>A	NP_000229.1:n.2146-134C>A
NM_001204798.1:c.1126-134C>A	NP_001191727.1:n.1126-134C>A
NM_172056.2:c.2146-134C>A , LRG_288t2:c.2146-134C>A	NP_742053.1:n.2146-134C>A
NM_172057.2:c.1126-134C>A , LRG_288t3:c.1126-134C>A	NP_742054.1:n.1126-134C>A
XM_011516185.1:c.1846-134C>A	XP_011514487.1:n.1846-134C>A
XM_011516186.1:c.2146-134C>A	XP_011514488.1:n.2146-134C>A
XM_011516185.2:c.1846-134C>A	XP_011514487.1:n.1846-134C>A
XM_011516186.3:c.2146-134C>A	XP_011514488.1:n.2146-134C>A
XM_017012195.1:c.1996-134C>A	XP_016867684.1:n.1996-134C>A
XM_017012196.1:c.1969-134C>A	XP_016867685.1:n.1969-134C>A
NM_000238.4:c.2146-134C>A MANE Select	NP_000229.1:n.2146-134C>A
NM_001204798.2:c.1126-134C>A	NP_001191727.1:n.1126-134C>A
NM_172057.3:c.1126-134C>A	NP_742054.1:n.1126-134C>A