Canonical Allele Identifier: CA005641

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200743
• ClinVar RCV Id: RCV000182031
• dbSNP Id: rs794728485
• MyVariant Identifiers: chr7:g.150648644T>A (hg19) ; chr7:g.150951556T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951556T>A , CM000669.2:g.150951556T>A	GRCh38
NC_000007.13:g.150648644T>A , CM000669.1:g.150648644T>A	GRCh37
NC_000007.12:g.150279577T>A	NCBI36
NG_008916.1:g.31371A>T , LRG_288:g.31371A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1135A>T
ENST00000684241.1:n.2670A>T
ENST00000262186.10:c.1837A>T MANE Select	ENSP00000262186.5:p.Thr613Ser
ENST00000330883.9:c.817A>T	ENSP00000328531.4:p.Thr273Ser
ENST00000262186.9:c.1837A>T	ENSP00000262186.5:p.Thr613Ser
ENST00000330883.8:c.817A>T	ENSP00000328531.4:p.Thr273Ser
ENST00000430723.4:c.1489A>T	ENSP00000387657.4:p.Thr497Ser
ENST00000461280.1:n.1124A>T
ENST00000473610.5:n.1142A>T
ENST00000532957.5:n.2060A>T
NM_000238.3:c.1837A>T , LRG_288t1:c.1837A>T	NP_000229.1:p.Thr613Ser
NM_001204798.1:c.817A>T	NP_001191727.1:p.Thr273Ser
NM_172056.2:c.1837A>T , LRG_288t2:c.1837A>T	NP_742053.1:p.Thr613Ser
NM_172057.2:c.817A>T , LRG_288t3:c.817A>T	NP_742054.1:p.Thr273Ser
XM_011516185.1:c.1537A>T	XP_011514487.1:p.Thr513Ser
XM_011516186.1:c.1837A>T	XP_011514488.1:p.Thr613Ser
XM_011516185.2:c.1537A>T	XP_011514487.1:p.Thr513Ser
XM_011516186.3:c.1837A>T	XP_011514488.1:p.Thr613Ser
XM_017012195.1:c.1687A>T	XP_016867684.1:p.Thr563Ser
XM_017012196.1:c.1660A>T	XP_016867685.1:p.Thr554Ser
NM_000238.4:c.1837A>T MANE Select	NP_000229.1:p.Thr613Ser
NM_001204798.2:c.817A>T	NP_001191727.1:p.Thr273Ser
NM_172057.3:c.817A>T	NP_742054.1:p.Thr273Ser