Canonical Allele Identifier: CA1752425643

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945410G= , CM000669.2:g.150945410G=	GRCh38
NC_000007.13:g.150642498G= , CM000669.1:g.150642498G=	GRCh37
NC_000007.12:g.150273431G=	NCBI36
NG_008916.1:g.37517C= , LRG_288:g.37517C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4268C=
ENST00000262186.10:c.3435C= MANE Select	ENSP00000262186.5:p.Leu1145=
ENST00000330883.9:c.2415C=	ENSP00000328531.4:p.Leu805=
ENST00000262186.9:c.3435C=	ENSP00000262186.5:p.Leu1145=
ENST00000330883.8:c.2415C=	ENSP00000328531.4:p.Leu805=
NM_000238.3:c.3435C= , LRG_288t1:c.3435C=	NP_000229.1:p.Leu1145=
NM_172057.2:c.2415C= , LRG_288t3:c.2415C=	NP_742054.1:p.Leu805=
XM_011516185.1:c.3135C=	XP_011514487.1:p.Leu1045=
XM_011516185.2:c.3135C=	XP_011514487.1:p.Leu1045=
XM_017012195.1:c.3285C=	XP_016867684.1:p.Leu1095=
XM_017012196.1:c.3258C=	XP_016867685.1:p.Leu1086=
NM_000238.4:c.3435C= MANE Select	NP_000229.1:p.Leu1145=
NM_172057.3:c.2415C=	NP_742054.1:p.Leu805=