Canonical Allele Identifier: CA369853736

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 633279
• ClinVar RCV Id: RCV000781485
• dbSNP Id: rs1563149602
• MyVariant Identifiers: chr7:g.150645573T>C (hg19) ; chr7:g.150948485T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948485T>C , CM000669.2:g.150948485T>C	GRCh38
NC_000007.13:g.150645573T>C , CM000669.1:g.150645573T>C	GRCh37
NC_000007.12:g.150276506T>C	NCBI36
NG_008916.1:g.34442A>G , LRG_288:g.34442A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3484A>G
ENST00000262186.10:c.2651A>G MANE Select	ENSP00000262186.5:p.Gln884Arg
ENST00000330883.9:c.1631A>G	ENSP00000328531.4:p.Gln544Arg
ENST00000262186.9:c.2651A>G	ENSP00000262186.5:p.Gln884Arg
ENST00000330883.8:c.1631A>G	ENSP00000328531.4:p.Gln544Arg
NM_000238.3:c.2651A>G , LRG_288t1:c.2651A>G	NP_000229.1:p.Gln884Arg
NM_172057.2:c.1631A>G , LRG_288t3:c.1631A>G	NP_742054.1:p.Gln544Arg
XM_011516185.1:c.2351A>G	XP_011514487.1:p.Gln784Arg
XM_011516186.1:c.2651A>G	XP_011514488.1:p.Gln884Arg
XM_011516185.2:c.2351A>G	XP_011514487.1:p.Gln784Arg
XM_011516186.3:c.2651A>G	XP_011514488.1:p.Gln884Arg
XM_017012195.1:c.2501A>G	XP_016867684.1:p.Gln834Arg
XM_017012196.1:c.2474A>G	XP_016867685.1:p.Gln825Arg
NM_000238.4:c.2651A>G MANE Select	NP_000229.1:p.Gln884Arg
NM_172057.3:c.1631A>G	NP_742054.1:p.Gln544Arg