Canonical Allele Identifier: CA369859816

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150952575-G-C
• MyVariant Identifiers: chr7:g.150649663G>C (hg19) ; chr7:g.150952575G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952575G>C , CM000669.2:g.150952575G>C	GRCh38
NC_000007.13:g.150649663G>C , CM000669.1:g.150649663G>C	GRCh37
NC_000007.12:g.150280596G>C	NCBI36
NG_008916.1:g.30352C>G , LRG_288:g.30352C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.705C>G
ENST00000684116.1:n.300C>G
ENST00000684241.1:n.2240C>G
ENST00000262186.10:c.1407C>G MANE Select	ENSP00000262186.5:p.Ile469Met
ENST00000330883.9:c.387C>G	ENSP00000328531.4:p.Ile129Met
ENST00000262186.9:c.1407C>G	ENSP00000262186.5:p.Ile469Met
ENST00000330883.8:c.387C>G	ENSP00000328531.4:p.Ile129Met
ENST00000430723.4:c.1059C>G	ENSP00000387657.4:p.Ile353Met
ENST00000461280.1:n.694C>G
ENST00000473610.5:n.712C>G
ENST00000532957.5:n.1630C>G
NM_000238.3:c.1407C>G , LRG_288t1:c.1407C>G	NP_000229.1:p.Ile469Met
NM_001204798.1:c.387C>G	NP_001191727.1:p.Ile129Met
NM_172056.2:c.1407C>G , LRG_288t2:c.1407C>G	NP_742053.1:p.Ile469Met
NM_172057.2:c.387C>G , LRG_288t3:c.387C>G	NP_742054.1:p.Ile129Met
XM_011516185.1:c.1107C>G	XP_011514487.1:p.Ile369Met
XM_011516186.1:c.1407C>G	XP_011514488.1:p.Ile469Met
XM_011516185.2:c.1107C>G	XP_011514487.1:p.Ile369Met
XM_011516186.3:c.1407C>G	XP_011514488.1:p.Ile469Met
XM_017012195.1:c.1257C>G	XP_016867684.1:p.Ile419Met
XM_017012196.1:c.1230C>G	XP_016867685.1:p.Ile410Met
NM_000238.4:c.1407C>G MANE Select	NP_000229.1:p.Ile469Met
NM_001204798.2:c.387C>G	NP_001191727.1:p.Ile129Met
NM_172057.3:c.387C>G	NP_742054.1:p.Ile129Met