Canonical Allele Identifier: CA1752419736

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959523G= , CM000669.2:g.150959523G=	GRCh38
NC_000007.13:g.150656611G= , CM000669.1:g.150656611G=	GRCh37
NC_000007.12:g.150287544G=	NCBI36
NG_008916.1:g.23404C= , LRG_288:g.23404C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1305+49C=
ENST00000262186.10:c.472+49C= MANE Select	ENSP00000262186.5:n.472+49C=
ENST00000262186.9:c.472+49C=	ENSP00000262186.5:n.472+49C=
ENST00000430723.4:c.234+110C=	ENSP00000387657.4:n.234+110C=
ENST00000532957.5:n.695+49C=
NM_000238.3:c.472+49C= , LRG_288t1:c.472+49C=	NP_000229.1:n.472+49C=
NM_172056.2:c.472+49C= , LRG_288t2:c.472+49C=	NP_742053.1:n.472+49C=
XM_011516185.1:c.172+49C=	XP_011514487.1:n.172+49C=
XM_011516186.1:c.472+49C=	XP_011514488.1:n.472+49C=
XM_011516185.2:c.172+49C=	XP_011514487.1:n.172+49C=
XM_011516186.3:c.472+49C=	XP_011514488.1:n.472+49C=
XM_017012195.1:c.322+49C=	XP_016867684.1:n.322+49C=
XM_017012196.1:c.295+49C=	XP_016867685.1:n.295+49C=
NM_000238.4:c.472+49C= MANE Select	NP_000229.1:n.472+49C=