Canonical Allele Identifier: CA1752427370

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946904G= , CM000669.2:g.150946904G=	GRCh38
NC_000007.13:g.150643992G= , CM000669.1:g.150643992G=	GRCh37
NC_000007.12:g.150274925G=	NCBI36
NG_008916.1:g.36023C= , LRG_288:g.36023C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4136C=
ENST00000262186.10:c.3303C= MANE Select	ENSP00000262186.5:p.Pro1101=
ENST00000330883.9:c.2283C=	ENSP00000328531.4:p.Pro761=
ENST00000262186.9:c.3303C=	ENSP00000262186.5:p.Pro1101=
ENST00000330883.8:c.2283C=	ENSP00000328531.4:p.Pro761=
NM_000238.3:c.3303C= , LRG_288t1:c.3303C=	NP_000229.1:p.Pro1101=
NM_172057.2:c.2283C= , LRG_288t3:c.2283C=	NP_742054.1:p.Pro761=
XM_011516185.1:c.3003C=	XP_011514487.1:p.Pro1001=
XM_011516185.2:c.3003C=	XP_011514487.1:p.Pro1001=
XM_017012195.1:c.3153C=	XP_016867684.1:p.Pro1051=
XM_017012196.1:c.3126C=	XP_016867685.1:p.Pro1042=
NM_000238.4:c.3303C= MANE Select	NP_000229.1:p.Pro1101=
NM_172057.3:c.2283C=	NP_742054.1:p.Pro761=