Canonical Allele Identifier: CA369857748

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1374952
• ClinVar RCV Id: RCV001900744 ; RCV002422942
• dbSNP Id: rs774672362
• MyVariant Identifiers: chr7:g.150648189G>C (hg19) ; chr7:g.150951101G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951101G>C , CM000669.2:g.150951101G>C	GRCh38
NC_000007.13:g.150648189G>C , CM000669.1:g.150648189G>C	GRCh37
NC_000007.12:g.150279122G>C	NCBI36
NG_008916.1:g.31826C>G , LRG_288:g.31826C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1263C>G
ENST00000683359.1:n.89C>G
ENST00000684241.1:n.2798C>G
ENST00000262186.10:c.1965C>G MANE Select	ENSP00000262186.5:p.Ile655Met
ENST00000330883.9:c.945C>G	ENSP00000328531.4:p.Ile315Met
ENST00000262186.9:c.1965C>G	ENSP00000262186.5:p.Ile655Met
ENST00000330883.8:c.945C>G	ENSP00000328531.4:p.Ile315Met
ENST00000430723.4:c.1617C>G	ENSP00000387657.4:p.Ile539Met
ENST00000461280.1:n.1252C>G
ENST00000473610.5:n.1597C>G
ENST00000532957.5:n.2188C>G
NM_000238.3:c.1965C>G , LRG_288t1:c.1965C>G	NP_000229.1:p.Ile655Met
NM_001204798.1:c.945C>G	NP_001191727.1:p.Ile315Met
NM_172056.2:c.1965C>G , LRG_288t2:c.1965C>G	NP_742053.1:p.Ile655Met
NM_172057.2:c.945C>G , LRG_288t3:c.945C>G	NP_742054.1:p.Ile315Met
XM_011516185.1:c.1665C>G	XP_011514487.1:p.Ile555Met
XM_011516186.1:c.1965C>G	XP_011514488.1:p.Ile655Met
XM_011516185.2:c.1665C>G	XP_011514487.1:p.Ile555Met
XM_011516186.3:c.1965C>G	XP_011514488.1:p.Ile655Met
XM_017012195.1:c.1815C>G	XP_016867684.1:p.Ile605Met
XM_017012196.1:c.1788C>G	XP_016867685.1:p.Ile596Met
NM_000238.4:c.1965C>G MANE Select	NP_000229.1:p.Ile655Met
NM_001204798.2:c.945C>G	NP_001191727.1:p.Ile315Met
NM_172057.3:c.945C>G	NP_742054.1:p.Ile315Met