Canonical Allele Identifier: CA1752416615

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957309G= , CM000669.2:g.150957309G=	GRCh38
NC_000007.13:g.150654397G= , CM000669.1:g.150654397G=	GRCh37
NC_000007.12:g.150285330G=	NCBI36
NG_008916.1:g.25618C= , LRG_288:g.25618C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1943C=
ENST00000262186.10:c.1110C= MANE Select	ENSP00000262186.5:p.Val370=
ENST00000262186.9:c.1110C=	ENSP00000262186.5:p.Val370=
ENST00000430723.4:c.762C=	ENSP00000387657.4:p.Val254=
ENST00000532957.5:n.1333C=
NM_000238.3:c.1110C= , LRG_288t1:c.1110C=	NP_000229.1:p.Val370=
NM_172056.2:c.1110C= , LRG_288t2:c.1110C=	NP_742053.1:p.Val370=
XM_011516185.1:c.810C=	XP_011514487.1:p.Val270=
XM_011516186.1:c.1110C=	XP_011514488.1:p.Val370=
XM_011516185.2:c.810C=	XP_011514487.1:p.Val270=
XM_011516186.3:c.1110C=	XP_011514488.1:p.Val370=
XM_017012195.1:c.960C=	XP_016867684.1:p.Val320=
XM_017012196.1:c.933C=	XP_016867685.1:p.Val311=
NM_000238.4:c.1110C= MANE Select	NP_000229.1:p.Val370=