Canonical Allele Identifier: CA369858935

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648829A>T (hg19) ; chr7:g.150951741A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951741A>T , CM000669.2:g.150951741A>T	GRCh38
NC_000007.13:g.150648829A>T , CM000669.1:g.150648829A>T	GRCh37
NC_000007.12:g.150279762A>T	NCBI36
NG_008916.1:g.31186T>A , LRG_288:g.31186T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.950T>A
ENST00000684116.1:n.545T>A
ENST00000684241.1:n.2485T>A
ENST00000262186.10:c.1652T>A MANE Select	ENSP00000262186.5:p.Phe551Tyr
ENST00000330883.9:c.632T>A	ENSP00000328531.4:p.Phe211Tyr
ENST00000262186.9:c.1652T>A	ENSP00000262186.5:p.Phe551Tyr
ENST00000330883.8:c.632T>A	ENSP00000328531.4:p.Phe211Tyr
ENST00000430723.4:c.1304T>A	ENSP00000387657.4:p.Phe435Tyr
ENST00000461280.1:n.939T>A
ENST00000473610.5:n.957T>A
ENST00000532957.5:n.1875T>A
NM_000238.3:c.1652T>A , LRG_288t1:c.1652T>A	NP_000229.1:p.Phe551Tyr
NM_001204798.1:c.632T>A	NP_001191727.1:p.Phe211Tyr
NM_172056.2:c.1652T>A , LRG_288t2:c.1652T>A	NP_742053.1:p.Phe551Tyr
NM_172057.2:c.632T>A , LRG_288t3:c.632T>A	NP_742054.1:p.Phe211Tyr
XM_011516185.1:c.1352T>A	XP_011514487.1:p.Phe451Tyr
XM_011516186.1:c.1652T>A	XP_011514488.1:p.Phe551Tyr
XM_011516185.2:c.1352T>A	XP_011514487.1:p.Phe451Tyr
XM_011516186.3:c.1652T>A	XP_011514488.1:p.Phe551Tyr
XM_017012195.1:c.1502T>A	XP_016867684.1:p.Phe501Tyr
XM_017012196.1:c.1475T>A	XP_016867685.1:p.Phe492Tyr
NM_000238.4:c.1652T>A MANE Select	NP_000229.1:p.Phe551Tyr
NM_001204798.2:c.632T>A	NP_001191727.1:p.Phe211Tyr
NM_172057.3:c.632T>A	NP_742054.1:p.Phe211Tyr