Canonical Allele Identifier: CA039494

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959601C>T , CM000669.2:g.150959601C>T	GRCh38
NC_000007.13:g.150656689C>T , CM000669.1:g.150656689C>T	GRCh37
NC_000007.12:g.150287622C>T	NCBI36
NG_008916.1:g.23326G>A , LRG_288:g.23326G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.443G>A MANE Select	NP_000229.1:p.Arg148Gln
ENST00000262186.10:c.443G>A MANE Select	ENSP00000262186.5:p.Arg148Gln
NM_000238.3:c.443G>A , LRG_288t1:c.443G>A	NP_000229.1:p.Arg148Gln
NM_172056.2:c.443G>A , LRG_288t2:c.443G>A	NP_742053.1:p.Arg148Gln
ENST00000262186.9:c.443G>A	ENSP00000262186.5:p.Arg148Gln
ENST00000430723.4:c.234+32G>A	ENSP00000387657.4:n.234+32G>A
ENST00000532957.5:n.666G>A
ENST00000684241.1:n.1276G>A
XM_011516185.1:c.143G>A	XP_011514487.1:p.Arg48Gln
XM_011516185.2:c.143G>A	XP_011514487.1:p.Arg48Gln
XM_011516186.1:c.443G>A	XP_011514488.1:p.Arg148Gln
XM_011516186.3:c.443G>A	XP_011514488.1:p.Arg148Gln
XM_017012195.1:c.293G>A	XP_016867684.1:p.Arg98Gln
XM_017012196.1:c.266G>A	XP_016867685.1:p.Arg89Gln