Canonical Allele Identifier: CA369853555

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 851829
• ClinVar RCV Id: RCV001056310
• dbSNP Id: rs1800975753
• MyVariant Identifiers: chr7:g.150644957T>C (hg19) ; chr7:g.150947869T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947869T>C , CM000669.2:g.150947869T>C	GRCh38
NC_000007.13:g.150644957T>C , CM000669.1:g.150644957T>C	GRCh37
NC_000007.12:g.150275890T>C	NCBI36
NG_008916.1:g.35058A>G , LRG_288:g.35058A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3535A>G
ENST00000262186.10:c.2702A>G MANE Select	ENSP00000262186.5:p.Gln901Arg
ENST00000330883.9:c.1682A>G	ENSP00000328531.4:p.Gln561Arg
ENST00000262186.9:c.2702A>G	ENSP00000262186.5:p.Gln901Arg
ENST00000330883.8:c.1682A>G	ENSP00000328531.4:p.Gln561Arg
NM_000238.3:c.2702A>G , LRG_288t1:c.2702A>G	NP_000229.1:p.Gln901Arg
NM_172057.2:c.1682A>G , LRG_288t3:c.1682A>G	NP_742054.1:p.Gln561Arg
XM_011516185.1:c.2402A>G	XP_011514487.1:p.Gln801Arg
XM_011516186.1:c.2693-178A>G	XP_011514488.1:n.2693-178A>G
XM_011516185.2:c.2402A>G	XP_011514487.1:p.Gln801Arg
XM_011516186.3:c.2693-178A>G	XP_011514488.1:n.2693-178A>G
XM_017012195.1:c.2552A>G	XP_016867684.1:p.Gln851Arg
XM_017012196.1:c.2525A>G	XP_016867685.1:p.Gln842Arg
NM_000238.4:c.2702A>G MANE Select	NP_000229.1:p.Gln901Arg
NM_172057.3:c.1682A>G	NP_742054.1:p.Gln561Arg