Canonical Allele Identifier: CA1752428381

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947336C= , CM000669.2:g.150947336C=	GRCh38
NC_000007.13:g.150644424C= , CM000669.1:g.150644424C=	GRCh37
NC_000007.12:g.150275357C=	NCBI36
NG_008916.1:g.35591G= , LRG_288:g.35591G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3977G=
ENST00000262186.10:c.3144G= MANE Select	ENSP00000262186.5:p.Gln1048=
ENST00000330883.9:c.2124G=	ENSP00000328531.4:p.Gln708=
ENST00000262186.9:c.3144G=	ENSP00000262186.5:p.Gln1048=
ENST00000330883.8:c.2124G=	ENSP00000328531.4:p.Gln708=
NM_000238.3:c.3144G= , LRG_288t1:c.3144G=	NP_000229.1:p.Gln1048=
NM_172057.2:c.2124G= , LRG_288t3:c.2124G=	NP_742054.1:p.Gln708=
XM_011516185.1:c.2844G=	XP_011514487.1:p.Gln948=
XM_011516185.2:c.2844G=	XP_011514487.1:p.Gln948=
XM_017012195.1:c.2994G=	XP_016867684.1:p.Gln998=
XM_017012196.1:c.2967G=	XP_016867685.1:p.Gln989=
NM_000238.4:c.3144G= MANE Select	NP_000229.1:p.Gln1048=
NM_172057.3:c.2124G=	NP_742054.1:p.Gln708=