Canonical Allele Identifier: CA458646094

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801414264
• MyVariant Identifiers: chr7:g.150654565G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957477G>T , CM000669.2:g.150957477G>T	GRCh38
NC_000007.13:g.150654565G>T , CM000669.1:g.150654565G>T	GRCh37
NC_000007.12:g.150285498G>T	NCBI36
NG_008916.1:g.25450C>A , LRG_288:g.25450C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1775C>A
ENST00000262186.10:c.942C>A MANE Select	ENSP00000262186.5:p.Gly314=
ENST00000262186.9:c.942C>A	ENSP00000262186.5:p.Gly314=
ENST00000430723.4:c.594C>A	ENSP00000387657.4:p.Gly198=
ENST00000532957.5:n.1165C>A
NM_000238.3:c.942C>A , LRG_288t1:c.942C>A	NP_000229.1:p.Gly314=
NM_172056.2:c.942C>A , LRG_288t2:c.942C>A	NP_742053.1:p.Gly314=
XM_011516185.1:c.642C>A	XP_011514487.1:p.Gly214=
XM_011516186.1:c.942C>A	XP_011514488.1:p.Gly314=
XM_011516185.2:c.642C>A	XP_011514487.1:p.Gly214=
XM_011516186.3:c.942C>A	XP_011514488.1:p.Gly314=
XM_017012195.1:c.792C>A	XP_016867684.1:p.Gly264=
XM_017012196.1:c.765C>A	XP_016867685.1:p.Gly255=
NM_000238.4:c.942C>A MANE Select	NP_000229.1:p.Gly314=