Canonical Allele Identifier: CA369860222

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150952778-G-A
• MyVariant Identifiers: chr7:g.150649866G>A (hg19) ; chr7:g.150952778G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952778G>A , CM000669.2:g.150952778G>A	GRCh38
NC_000007.13:g.150649866G>A , CM000669.1:g.150649866G>A	GRCh37
NC_000007.12:g.150280799G>A	NCBI36
NG_008916.1:g.30149C>T , LRG_288:g.30149C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.502C>T
ENST00000684116.1:n.97C>T
ENST00000684241.1:n.2037C>T
ENST00000262186.10:c.1204C>T MANE Select	ENSP00000262186.5:p.His402Tyr
ENST00000330883.9:c.184C>T	ENSP00000328531.4:p.His62Tyr
ENST00000262186.9:c.1204C>T	ENSP00000262186.5:p.His402Tyr
ENST00000330883.8:c.184C>T	ENSP00000328531.4:p.His62Tyr
ENST00000430723.4:c.856C>T	ENSP00000387657.4:p.His286Tyr
ENST00000461280.1:n.491C>T
ENST00000473610.5:n.509C>T
ENST00000532957.5:n.1427C>T
NM_000238.3:c.1204C>T , LRG_288t1:c.1204C>T	NP_000229.1:p.His402Tyr
NM_001204798.1:c.184C>T	NP_001191727.1:p.His62Tyr
NM_172056.2:c.1204C>T , LRG_288t2:c.1204C>T	NP_742053.1:p.His402Tyr
NM_172057.2:c.184C>T , LRG_288t3:c.184C>T	NP_742054.1:p.His62Tyr
XM_011516185.1:c.904C>T	XP_011514487.1:p.His302Tyr
XM_011516186.1:c.1204C>T	XP_011514488.1:p.His402Tyr
XM_011516185.2:c.904C>T	XP_011514487.1:p.His302Tyr
XM_011516186.3:c.1204C>T	XP_011514488.1:p.His402Tyr
XM_017012195.1:c.1054C>T	XP_016867684.1:p.His352Tyr
XM_017012196.1:c.1027C>T	XP_016867685.1:p.His343Tyr
NM_000238.4:c.1204C>T MANE Select	NP_000229.1:p.His402Tyr
NM_001204798.2:c.184C>T	NP_001191727.1:p.His62Tyr
NM_172057.3:c.184C>T	NP_742054.1:p.His62Tyr