Canonical Allele Identifier: CA006099

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200230
• ClinVar RCV Id: RCV000181727 ; RCV000283094 ; RCV000253499 ; RCV000710149 ; RCV001095278 ; RCV001842805
• dbSNP Id: rs1137617
• ExAC: 7:150648198 A / G
• gnomAD v2: 7-150648198-A-G
• gnomAD v3: 7-150951110-A-G
• gnomAD v4: 7-150951110-A-G
• MyVariant Identifiers: chr7:g.150648198A>G (hg19) ; chr7:g.150951110A>G (hg38)
• PubMed: PMID:10807545 ; PMID:14760488 ; PMID:17224687 ; PMID:21063070 ; PMID:21109023 ; PMID:21779290 ; PMID:25028483

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951110A>G , CM000669.2:g.150951110A>G	GRCh38
NC_000007.13:g.150648198A>G , CM000669.1:g.150648198A>G	GRCh37
NC_000007.12:g.150279131A>G	NCBI36
NG_008916.1:g.31817T>C , LRG_288:g.31817T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1254T>C
ENST00000683359.1:n.80T>C
ENST00000684241.1:n.2789T>C
ENST00000262186.10:c.1956T>C MANE Select	ENSP00000262186.5:p.Tyr652=
ENST00000330883.9:c.936T>C	ENSP00000328531.4:p.Tyr312=
ENST00000262186.9:c.1956T>C	ENSP00000262186.5:p.Tyr652=
ENST00000330883.8:c.936T>C	ENSP00000328531.4:p.Tyr312=
ENST00000430723.4:c.1608T>C	ENSP00000387657.4:p.Tyr536=
ENST00000461280.1:n.1243T>C
ENST00000473610.5:n.1588T>C
ENST00000532957.5:n.2179T>C
NM_000238.3:c.1956T>C , LRG_288t1:c.1956T>C	NP_000229.1:p.Tyr652=
NM_001204798.1:c.936T>C	NP_001191727.1:p.Tyr312=
NM_172056.2:c.1956T>C , LRG_288t2:c.1956T>C	NP_742053.1:p.Tyr652=
NM_172057.2:c.936T>C , LRG_288t3:c.936T>C	NP_742054.1:p.Tyr312=
XM_011516185.1:c.1656T>C	XP_011514487.1:p.Tyr552=
XM_011516186.1:c.1956T>C	XP_011514488.1:p.Tyr652=
XM_011516185.2:c.1656T>C	XP_011514487.1:p.Tyr552=
XM_011516186.3:c.1956T>C	XP_011514488.1:p.Tyr652=
XM_017012195.1:c.1806T>C	XP_016867684.1:p.Tyr602=
XM_017012196.1:c.1779T>C	XP_016867685.1:p.Tyr593=
NM_000238.4:c.1956T>C MANE Select	NP_000229.1:p.Tyr652=
NM_001204798.2:c.936T>C	NP_001191727.1:p.Tyr312=
NM_172057.3:c.936T>C	NP_742054.1:p.Tyr312=