Canonical Allele Identifier: CA1752428170

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947212G= , CM000669.2:g.150947212G=	GRCh38
NC_000007.13:g.150644300G= , CM000669.1:g.150644300G=	GRCh37
NC_000007.12:g.150275233G=	NCBI36
NG_008916.1:g.35715C= , LRG_288:g.35715C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3985+116C=
ENST00000262186.10:c.3152+116C= MANE Select	ENSP00000262186.5:n.3152+116C=
ENST00000330883.9:c.2132+116C=	ENSP00000328531.4:n.2132+116C=
ENST00000262186.9:c.3152+116C=	ENSP00000262186.5:n.3152+116C=
ENST00000330883.8:c.2132+116C=	ENSP00000328531.4:n.2132+116C=
NM_000238.3:c.3152+116C= , LRG_288t1:c.3152+116C=	NP_000229.1:n.3152+116C=
NM_172057.2:c.2132+116C= , LRG_288t3:c.2132+116C=	NP_742054.1:n.2132+116C=
XM_011516185.1:c.2852+116C=	XP_011514487.1:n.2852+116C=
XM_011516185.2:c.2852+116C=	XP_011514487.1:n.2852+116C=
XM_017012195.1:c.3002+116C=	XP_016867684.1:n.3002+116C=
XM_017012196.1:c.2975+116C=	XP_016867685.1:n.2975+116C=
NM_000238.4:c.3152+116C= MANE Select	NP_000229.1:n.3152+116C=
NM_172057.3:c.2132+116C=	NP_742054.1:n.2132+116C=