Canonical Allele Identifier: CA10582468

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974824G>C , CM000669.2:g.150974824G>C	GRCh38
NC_000007.13:g.150671912G>C , CM000669.1:g.150671912G>C	GRCh37
NC_000007.12:g.150302845G>C	NCBI36
NG_008916.1:g.8103C>G , LRG_288:g.8103C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.194C>G MANE Select	NP_000229.1:p.Thr65Ser
ENST00000262186.10:c.194C>G MANE Select	ENSP00000262186.5:p.Thr65Ser
NM_000238.3:c.194C>G , LRG_288t1:c.194C>G	NP_000229.1:p.Thr65Ser
NM_172056.2:c.194C>G , LRG_288t2:c.194C>G	NP_742053.1:p.Thr65Ser
ENST00000262186.9:c.194C>G	ENSP00000262186.5:p.Thr65Ser
ENST00000430723.4:c.17C>G	ENSP00000387657.4:p.Thr6Ser
ENST00000532957.5:n.417C>G
XM_011516186.1:c.194C>G	XP_011514488.1:p.Thr65Ser
XM_011516186.3:c.194C>G	XP_011514488.1:p.Thr65Ser
XM_017012196.1:c.17C>G	XP_016867685.1:p.Thr6Ser