Canonical Allele Identifier: CA1752428493

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947362T= , CM000669.2:g.150947362T=	GRCh38
NC_000007.13:g.150644450T= , CM000669.1:g.150644450T=	GRCh37
NC_000007.12:g.150275383T=	NCBI36
NG_008916.1:g.35565A= , LRG_288:g.35565A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3951A=
ENST00000262186.10:c.3118A= MANE Select	ENSP00000262186.5:p.Ser1040=
ENST00000330883.9:c.2098A=	ENSP00000328531.4:p.Ser700=
ENST00000262186.9:c.3118A=	ENSP00000262186.5:p.Ser1040=
ENST00000330883.8:c.2098A=	ENSP00000328531.4:p.Ser700=
NM_000238.3:c.3118A= , LRG_288t1:c.3118A=	NP_000229.1:p.Ser1040=
NM_172057.2:c.2098A= , LRG_288t3:c.2098A=	NP_742054.1:p.Ser700=
XM_011516185.1:c.2818A=	XP_011514487.1:p.Ser940=
XM_011516185.2:c.2818A=	XP_011514487.1:p.Ser940=
XM_017012195.1:c.2968A=	XP_016867684.1:p.Ser990=
XM_017012196.1:c.2941A=	XP_016867685.1:p.Ser981=
NM_000238.4:c.3118A= MANE Select	NP_000229.1:p.Ser1040=
NM_172057.3:c.2098A=	NP_742054.1:p.Ser700=