Canonical Allele Identifier: CA1752430947

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948272G= , CM000669.2:g.150948272G=	GRCh38
NC_000007.13:g.150645360G= , CM000669.1:g.150645360G=	GRCh37
NC_000007.12:g.150276293G=	NCBI36
NG_008916.1:g.34655C= , LRG_288:g.34655C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3525+172C=
ENST00000262186.10:c.2692+172C= MANE Select	ENSP00000262186.5:n.2692+172C=
ENST00000330883.9:c.1672+172C=	ENSP00000328531.4:n.1672+172C=
ENST00000262186.9:c.2692+172C=	ENSP00000262186.5:n.2692+172C=
ENST00000330883.8:c.1672+172C=	ENSP00000328531.4:n.1672+172C=
NM_000238.3:c.2692+172C= , LRG_288t1:c.2692+172C=	NP_000229.1:n.2692+172C=
NM_172057.2:c.1672+172C= , LRG_288t3:c.1672+172C=	NP_742054.1:n.1672+172C=
XM_011516185.1:c.2392+172C=	XP_011514487.1:n.2392+172C=
XM_011516186.1:c.2692+172C=	XP_011514488.1:n.2692+172C=
XM_011516185.2:c.2392+172C=	XP_011514487.1:n.2392+172C=
XM_011516186.3:c.2692+172C=	XP_011514488.1:n.2692+172C=
XM_017012195.1:c.2542+172C=	XP_016867684.1:n.2542+172C=
XM_017012196.1:c.2515+172C=	XP_016867685.1:n.2515+172C=
NM_000238.4:c.2692+172C= MANE Select	NP_000229.1:n.2692+172C=
NM_172057.3:c.1672+172C=	NP_742054.1:n.1672+172C=