Canonical Allele Identifier: CA1752429690

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947607T= , CM000669.2:g.150947607T=	GRCh38
NC_000007.13:g.150644695T= , CM000669.1:g.150644695T=	GRCh37
NC_000007.12:g.150275628T=	NCBI36
NG_008916.1:g.35320A= , LRG_288:g.35320A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3797A=
ENST00000262186.10:c.2964A= MANE Select	ENSP00000262186.5:p.Ser988=
ENST00000330883.9:c.1944A=	ENSP00000328531.4:p.Ser648=
ENST00000262186.9:c.2964A=	ENSP00000262186.5:p.Ser988=
ENST00000330883.8:c.1944A=	ENSP00000328531.4:p.Ser648=
NM_000238.3:c.2964A= , LRG_288t1:c.2964A=	NP_000229.1:p.Ser988=
NM_172057.2:c.1944A= , LRG_288t3:c.1944A=	NP_742054.1:p.Ser648=
XM_011516185.1:c.2664A=	XP_011514487.1:p.Ser888=
XM_011516186.1:c.*44A=	XP_011514488.1:n.*44A=
XM_011516185.2:c.2664A=	XP_011514487.1:p.Ser888=
XM_011516186.3:c.*44A=	XP_011514488.1:n.*44A=
XM_017012195.1:c.2814A=	XP_016867684.1:p.Ser938=
XM_017012196.1:c.2787A=	XP_016867685.1:p.Ser929=
NM_000238.4:c.2964A= MANE Select	NP_000229.1:p.Ser988=
NM_172057.3:c.1944A=	NP_742054.1:p.Ser648=