Canonical Allele Identifier: CA004610

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67198
• ClinVar RCV Id: RCV000057906 ; RCV000182021 ; RCV002390207
• dbSNP Id: rs199472906
• MyVariant Identifiers: chr7:g.150649649G>A (hg19) ; chr7:g.150952561G>A (hg38)
• PubMed: PMID:9024139 ; PMID:9694858 ; PMID:16432067 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952561G>A , CM000669.2:g.150952561G>A	GRCh38
NC_000007.13:g.150649649G>A , CM000669.1:g.150649649G>A	GRCh37
NC_000007.12:g.150280582G>A	NCBI36
NG_008916.1:g.30366C>T , LRG_288:g.30366C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.719C>T
ENST00000684116.1:n.314C>T
ENST00000684241.1:n.2254C>T
ENST00000262186.10:c.1421C>T MANE Select	ENSP00000262186.5:p.Thr474Ile
ENST00000330883.9:c.401C>T	ENSP00000328531.4:p.Thr134Ile
ENST00000262186.9:c.1421C>T	ENSP00000262186.5:p.Thr474Ile
ENST00000330883.8:c.401C>T	ENSP00000328531.4:p.Thr134Ile
ENST00000430723.4:c.1073C>T	ENSP00000387657.4:p.Thr358Ile
ENST00000461280.1:n.708C>T
ENST00000473610.5:n.726C>T
ENST00000532957.5:n.1644C>T
NM_000238.3:c.1421C>T , LRG_288t1:c.1421C>T	NP_000229.1:p.Thr474Ile
NM_001204798.1:c.401C>T	NP_001191727.1:p.Thr134Ile
NM_172056.2:c.1421C>T , LRG_288t2:c.1421C>T	NP_742053.1:p.Thr474Ile
NM_172057.2:c.401C>T , LRG_288t3:c.401C>T	NP_742054.1:p.Thr134Ile
XM_011516185.1:c.1121C>T	XP_011514487.1:p.Thr374Ile
XM_011516186.1:c.1421C>T	XP_011514488.1:p.Thr474Ile
XM_011516185.2:c.1121C>T	XP_011514487.1:p.Thr374Ile
XM_011516186.3:c.1421C>T	XP_011514488.1:p.Thr474Ile
XM_017012195.1:c.1271C>T	XP_016867684.1:p.Thr424Ile
XM_017012196.1:c.1244C>T	XP_016867685.1:p.Thr415Ile
NM_000238.4:c.1421C>T MANE Select	NP_000229.1:p.Thr474Ile
NM_001204798.2:c.401C>T	NP_001191727.1:p.Thr134Ile
NM_172057.3:c.401C>T	NP_742054.1:p.Thr134Ile