Canonical Allele Identifier: CA008457

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959598C>G , CM000669.2:g.150959598C>G	GRCh38
NC_000007.13:g.150656686C>G , CM000669.1:g.150656686C>G	GRCh37
NC_000007.12:g.150287619C>G	NCBI36
NG_008916.1:g.23329G>C , LRG_288:g.23329G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.446G>C MANE Select	NP_000229.1:p.Gly149Ala
ENST00000262186.10:c.446G>C MANE Select	ENSP00000262186.5:p.Gly149Ala
NM_000238.3:c.446G>C , LRG_288t1:c.446G>C	NP_000229.1:p.Gly149Ala
NM_172056.2:c.446G>C , LRG_288t2:c.446G>C	NP_742053.1:p.Gly149Ala
ENST00000262186.9:c.446G>C	ENSP00000262186.5:p.Gly149Ala
ENST00000430723.4:c.234+35G>C	ENSP00000387657.4:n.234+35G>C
ENST00000532957.5:n.669G>C
ENST00000684241.1:n.1279G>C
XM_011516185.1:c.146G>C	XP_011514487.1:p.Gly49Ala
XM_011516185.2:c.146G>C	XP_011514487.1:p.Gly49Ala
XM_011516186.1:c.446G>C	XP_011514488.1:p.Gly149Ala
XM_011516186.3:c.446G>C	XP_011514488.1:p.Gly149Ala
XM_017012195.1:c.296G>C	XP_016867684.1:p.Gly99Ala
XM_017012196.1:c.269G>C	XP_016867685.1:p.Gly90Ala