Canonical Allele Identifier: CA369861509

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654425G>T (hg19) ; chr7:g.150957337G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957337G>T , CM000669.2:g.150957337G>T	GRCh38
NC_000007.13:g.150654425G>T , CM000669.1:g.150654425G>T	GRCh37
NC_000007.12:g.150285358G>T	NCBI36
NG_008916.1:g.25590C>A , LRG_288:g.25590C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1915C>A
ENST00000262186.10:c.1082C>A MANE Select	ENSP00000262186.5:p.Pro361His
ENST00000262186.9:c.1082C>A	ENSP00000262186.5:p.Pro361His
ENST00000430723.4:c.734C>A	ENSP00000387657.4:p.Pro245His
ENST00000532957.5:n.1305C>A
NM_000238.3:c.1082C>A , LRG_288t1:c.1082C>A	NP_000229.1:p.Pro361His
NM_172056.2:c.1082C>A , LRG_288t2:c.1082C>A	NP_742053.1:p.Pro361His
XM_011516185.1:c.782C>A	XP_011514487.1:p.Pro261His
XM_011516186.1:c.1082C>A	XP_011514488.1:p.Pro361His
XM_011516185.2:c.782C>A	XP_011514487.1:p.Pro261His
XM_011516186.3:c.1082C>A	XP_011514488.1:p.Pro361His
XM_017012195.1:c.932C>A	XP_016867684.1:p.Pro311His
XM_017012196.1:c.905C>A	XP_016867685.1:p.Pro302His
NM_000238.4:c.1082C>A MANE Select	NP_000229.1:p.Pro361His