Canonical Allele Identifier: CA005728

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67302
• ClinVar RCV Id: RCV000058020 ; RCV003531956
• dbSNP Id: rs199472950
• gnomAD v4: 7-150951525-G-A
• MyVariant Identifiers: chr7:g.150648613G>A (hg19) ; chr7:g.150951525G>A (hg38)
• PubMed: PMID:15840476 ; PMID:16432067 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951525G>A , CM000669.2:g.150951525G>A	GRCh38
NC_000007.13:g.150648613G>A , CM000669.1:g.150648613G>A	GRCh37
NC_000007.12:g.150279546G>A	NCBI36
NG_008916.1:g.31402C>T , LRG_288:g.31402C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1166C>T
ENST00000684241.1:n.2701C>T
ENST00000262186.10:c.1868C>T MANE Select	ENSP00000262186.5:p.Thr623Ile
ENST00000330883.9:c.848C>T	ENSP00000328531.4:p.Thr283Ile
ENST00000262186.9:c.1868C>T	ENSP00000262186.5:p.Thr623Ile
ENST00000330883.8:c.848C>T	ENSP00000328531.4:p.Thr283Ile
ENST00000430723.4:c.1520C>T	ENSP00000387657.4:p.Thr507Ile
ENST00000461280.1:n.1155C>T
ENST00000473610.5:n.1173C>T
ENST00000532957.5:n.2091C>T
NM_000238.3:c.1868C>T , LRG_288t1:c.1868C>T	NP_000229.1:p.Thr623Ile
NM_001204798.1:c.848C>T	NP_001191727.1:p.Thr283Ile
NM_172056.2:c.1868C>T , LRG_288t2:c.1868C>T	NP_742053.1:p.Thr623Ile
NM_172057.2:c.848C>T , LRG_288t3:c.848C>T	NP_742054.1:p.Thr283Ile
XM_011516185.1:c.1568C>T	XP_011514487.1:p.Thr523Ile
XM_011516186.1:c.1868C>T	XP_011514488.1:p.Thr623Ile
XM_011516185.2:c.1568C>T	XP_011514487.1:p.Thr523Ile
XM_011516186.3:c.1868C>T	XP_011514488.1:p.Thr623Ile
XM_017012195.1:c.1718C>T	XP_016867684.1:p.Thr573Ile
XM_017012196.1:c.1691C>T	XP_016867685.1:p.Thr564Ile
NM_000238.4:c.1868C>T MANE Select	NP_000229.1:p.Thr623Ile
NM_001204798.2:c.848C>T	NP_001191727.1:p.Thr283Ile
NM_172057.3:c.848C>T	NP_742054.1:p.Thr283Ile