Canonical Allele Identifier: CA369857602

Gene: KCNH2

Linked Data

• dbSNP Id: rs1415475452
• gnomAD v2: 7-150648113-G-A
• gnomAD v4: 7-150951025-G-A
• MyVariant Identifiers: chr7:g.150648113G>A (hg19) ; chr7:g.150951025G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951025G>A , CM000669.2:g.150951025G>A	GRCh38
NC_000007.13:g.150648113G>A , CM000669.1:g.150648113G>A	GRCh37
NC_000007.12:g.150279046G>A	NCBI36
NG_008916.1:g.31902C>T , LRG_288:g.31902C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1339C>T
ENST00000683359.1:n.165C>T
ENST00000684241.1:n.2874C>T
ENST00000262186.10:c.2041C>T MANE Select	ENSP00000262186.5:p.Arg681Trp
ENST00000330883.9:c.1021C>T	ENSP00000328531.4:p.Arg341Trp
ENST00000262186.9:c.2041C>T	ENSP00000262186.5:p.Arg681Trp
ENST00000330883.8:c.1021C>T	ENSP00000328531.4:p.Arg341Trp
ENST00000430723.4:c.1693C>T	ENSP00000387657.4:p.Arg565Trp
ENST00000461280.1:n.1328C>T
ENST00000473610.5:n.1673C>T
ENST00000532957.5:n.2264C>T
NM_000238.3:c.2041C>T , LRG_288t1:c.2041C>T	NP_000229.1:p.Arg681Trp
NM_001204798.1:c.1021C>T	NP_001191727.1:p.Arg341Trp
NM_172056.2:c.2041C>T , LRG_288t2:c.2041C>T	NP_742053.1:p.Arg681Trp
NM_172057.2:c.1021C>T , LRG_288t3:c.1021C>T	NP_742054.1:p.Arg341Trp
XM_011516185.1:c.1741C>T	XP_011514487.1:p.Arg581Trp
XM_011516186.1:c.2041C>T	XP_011514488.1:p.Arg681Trp
XM_011516185.2:c.1741C>T	XP_011514487.1:p.Arg581Trp
XM_011516186.3:c.2041C>T	XP_011514488.1:p.Arg681Trp
XM_017012195.1:c.1891C>T	XP_016867684.1:p.Arg631Trp
XM_017012196.1:c.1864C>T	XP_016867685.1:p.Arg622Trp
NM_000238.4:c.2041C>T MANE Select	NP_000229.1:p.Arg681Trp
NM_001204798.2:c.1021C>T	NP_001191727.1:p.Arg341Trp
NM_172057.3:c.1021C>T	NP_742054.1:p.Arg341Trp