Canonical Allele Identifier: CA169074683

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 927354
• ClinVar RCV Id: RCV001480284 ; RCV001841111
• dbSNP Id: rs1036535206
• gnomAD v2: 7-150645947-T-C
• gnomAD v3: 7-150948859-T-C
• gnomAD v4: 7-150948859-T-C
• MyVariant Identifiers: chr7:g.150645947T>C (hg19) ; chr7:g.150948859T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948859T>C , CM000669.2:g.150948859T>C	GRCh38
NC_000007.13:g.150645947T>C , CM000669.1:g.150645947T>C	GRCh37
NC_000007.12:g.150276880T>C	NCBI36
NG_008916.1:g.34068A>G , LRG_288:g.34068A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3422A>G
ENST00000262186.10:c.2589A>G MANE Select	ENSP00000262186.5:p.Arg863=
ENST00000330883.9:c.1569A>G	ENSP00000328531.4:p.Arg523=
ENST00000262186.9:c.2589A>G	ENSP00000262186.5:p.Arg863=
ENST00000330883.8:c.1569A>G	ENSP00000328531.4:p.Arg523=
NM_000238.3:c.2589A>G , LRG_288t1:c.2589A>G	NP_000229.1:p.Arg863=
NM_172057.2:c.1569A>G , LRG_288t3:c.1569A>G	NP_742054.1:p.Arg523=
XM_011516185.1:c.2289A>G	XP_011514487.1:p.Arg763=
XM_011516186.1:c.2589A>G	XP_011514488.1:p.Arg863=
XM_011516185.2:c.2289A>G	XP_011514487.1:p.Arg763=
XM_011516186.3:c.2589A>G	XP_011514488.1:p.Arg863=
XM_017012195.1:c.2439A>G	XP_016867684.1:p.Arg813=
XM_017012196.1:c.2412A>G	XP_016867685.1:p.Arg804=
NM_000238.4:c.2589A>G MANE Select	NP_000229.1:p.Arg863=
NM_172057.3:c.1569A>G	NP_742054.1:p.Arg523=