Canonical Allele Identifier: CA1752425850

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945501A= , CM000669.2:g.150945501A=	GRCh38
NC_000007.13:g.150642589A= , CM000669.1:g.150642589A=	GRCh37
NC_000007.12:g.150273522A=	NCBI36
NG_008916.1:g.37426T= , LRG_288:g.37426T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4177T=
ENST00000262186.10:c.3344T= MANE Select	ENSP00000262186.5:p.Met1115=
ENST00000330883.9:c.2324T=	ENSP00000328531.4:p.Met775=
ENST00000262186.9:c.3344T=	ENSP00000262186.5:p.Met1115=
ENST00000330883.8:c.2324T=	ENSP00000328531.4:p.Met775=
NM_000238.3:c.3344T= , LRG_288t1:c.3344T=	NP_000229.1:p.Met1115=
NM_172057.2:c.2324T= , LRG_288t3:c.2324T=	NP_742054.1:p.Met775=
XM_011516185.1:c.3044T=	XP_011514487.1:p.Met1015=
XM_011516185.2:c.3044T=	XP_011514487.1:p.Met1015=
XM_017012195.1:c.3194T=	XP_016867684.1:p.Met1065=
XM_017012196.1:c.3167T=	XP_016867685.1:p.Met1056=
NM_000238.4:c.3344T= MANE Select	NP_000229.1:p.Met1115=
NM_172057.3:c.2324T=	NP_742054.1:p.Met775=