Canonical Allele Identifier: CA1752430403

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947820C= , CM000669.2:g.150947820C=	GRCh38
NC_000007.13:g.150644908C= , CM000669.1:g.150644908C=	GRCh37
NC_000007.12:g.150275841C=	NCBI36
NG_008916.1:g.35107G= , LRG_288:g.35107G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3584G=
ENST00000262186.10:c.2751G= MANE Select	ENSP00000262186.5:p.Pro917=
ENST00000330883.9:c.1731G=	ENSP00000328531.4:p.Pro577=
ENST00000262186.9:c.2751G=	ENSP00000262186.5:p.Pro917=
ENST00000330883.8:c.1731G=	ENSP00000328531.4:p.Pro577=
NM_000238.3:c.2751G= , LRG_288t1:c.2751G=	NP_000229.1:p.Pro917=
NM_172057.2:c.1731G= , LRG_288t3:c.1731G=	NP_742054.1:p.Pro577=
XM_011516185.1:c.2451G=	XP_011514487.1:p.Pro817=
XM_011516186.1:c.2693-129G=	XP_011514488.1:n.2693-129G=
XM_011516185.2:c.2451G=	XP_011514487.1:p.Pro817=
XM_011516186.3:c.2693-129G=	XP_011514488.1:n.2693-129G=
XM_017012195.1:c.2601G=	XP_016867684.1:p.Pro867=
XM_017012196.1:c.2574G=	XP_016867685.1:p.Pro858=
NM_000238.4:c.2751G= MANE Select	NP_000229.1:p.Pro917=
NM_172057.3:c.1731G=	NP_742054.1:p.Pro577=