Canonical Allele Identifier: CA1752418948

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958556G= , CM000669.2:g.150958556G=	GRCh38
NC_000007.13:g.150655644G= , CM000669.1:g.150655644G=	GRCh37
NC_000007.12:g.150286577G=	NCBI36
NG_008916.1:g.24371C= , LRG_288:g.24371C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1306-54C=
ENST00000262186.10:c.473-54C= MANE Select	ENSP00000262186.5:n.473-54C=
ENST00000262186.9:c.473-54C=	ENSP00000262186.5:n.473-54C=
ENST00000430723.4:c.235-164C=	ENSP00000387657.4:n.235-164C=
ENST00000532957.5:n.696-54C=
NM_000238.3:c.473-54C= , LRG_288t1:c.473-54C=	NP_000229.1:n.473-54C=
NM_172056.2:c.473-54C= , LRG_288t2:c.473-54C=	NP_742053.1:n.473-54C=
XM_011516185.1:c.173-54C=	XP_011514487.1:n.173-54C=
XM_011516186.1:c.473-54C=	XP_011514488.1:n.473-54C=
XM_011516185.2:c.173-54C=	XP_011514487.1:n.173-54C=
XM_011516186.3:c.473-54C=	XP_011514488.1:n.473-54C=
XM_017012195.1:c.323-54C=	XP_016867684.1:n.323-54C=
XM_017012196.1:c.296-54C=	XP_016867685.1:n.296-54C=
NM_000238.4:c.473-54C= MANE Select	NP_000229.1:n.473-54C=