Canonical Allele Identifier: CA369857636

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648132G>C (hg19) ; chr7:g.150951044G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951044G>C , CM000669.2:g.150951044G>C	GRCh38
NC_000007.13:g.150648132G>C , CM000669.1:g.150648132G>C	GRCh37
NC_000007.12:g.150279065G>C	NCBI36
NG_008916.1:g.31883C>G , LRG_288:g.31883C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1320C>G
ENST00000683359.1:n.146C>G
ENST00000684241.1:n.2855C>G
ENST00000262186.10:c.2022C>G MANE Select	ENSP00000262186.5:p.His674Gln
ENST00000330883.9:c.1002C>G	ENSP00000328531.4:p.His334Gln
ENST00000262186.9:c.2022C>G	ENSP00000262186.5:p.His674Gln
ENST00000330883.8:c.1002C>G	ENSP00000328531.4:p.His334Gln
ENST00000430723.4:c.1674C>G	ENSP00000387657.4:p.His558Gln
ENST00000461280.1:n.1309C>G
ENST00000473610.5:n.1654C>G
ENST00000532957.5:n.2245C>G
NM_000238.3:c.2022C>G , LRG_288t1:c.2022C>G	NP_000229.1:p.His674Gln
NM_001204798.1:c.1002C>G	NP_001191727.1:p.His334Gln
NM_172056.2:c.2022C>G , LRG_288t2:c.2022C>G	NP_742053.1:p.His674Gln
NM_172057.2:c.1002C>G , LRG_288t3:c.1002C>G	NP_742054.1:p.His334Gln
XM_011516185.1:c.1722C>G	XP_011514487.1:p.His574Gln
XM_011516186.1:c.2022C>G	XP_011514488.1:p.His674Gln
XM_011516185.2:c.1722C>G	XP_011514487.1:p.His574Gln
XM_011516186.3:c.2022C>G	XP_011514488.1:p.His674Gln
XM_017012195.1:c.1872C>G	XP_016867684.1:p.His624Gln
XM_017012196.1:c.1845C>G	XP_016867685.1:p.His615Gln
NM_000238.4:c.2022C>G MANE Select	NP_000229.1:p.His674Gln
NM_001204798.2:c.1002C>G	NP_001191727.1:p.His334Gln
NM_172057.3:c.1002C>G	NP_742054.1:p.His334Gln