Canonical Allele Identifier: CA040915

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 923222
• ClinVar RCV Id: RCV001298458 ; RCV001843181 ; RCV002224005 ; RCV002375079
• dbSNP Id: rs372559632
• ExAC: 7:150654584 A / C
• gnomAD v2: 7-150654584-A-C
• gnomAD v3: 7-150957496-A-C
• gnomAD v4: 7-150957496-A-C
• MyVariant Identifiers: chr7:g.150654584A>C (hg19) ; chr7:g.150957496A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957496A>C , CM000669.2:g.150957496A>C	GRCh38
NC_000007.13:g.150654584A>C , CM000669.1:g.150654584A>C	GRCh37
NC_000007.12:g.150285517A>C	NCBI36
NG_008916.1:g.25431T>G , LRG_288:g.25431T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1756T>G
ENST00000262186.10:c.923T>G MANE Select	ENSP00000262186.5:p.Met308Arg
ENST00000262186.9:c.923T>G	ENSP00000262186.5:p.Met308Arg
ENST00000430723.4:c.575T>G	ENSP00000387657.4:p.Met192Arg
ENST00000532957.5:n.1146T>G
NM_000238.3:c.923T>G , LRG_288t1:c.923T>G	NP_000229.1:p.Met308Arg
NM_172056.2:c.923T>G , LRG_288t2:c.923T>G	NP_742053.1:p.Met308Arg
XM_011516185.1:c.623T>G	XP_011514487.1:p.Met208Arg
XM_011516186.1:c.923T>G	XP_011514488.1:p.Met308Arg
XM_011516185.2:c.623T>G	XP_011514487.1:p.Met208Arg
XM_011516186.3:c.923T>G	XP_011514488.1:p.Met308Arg
XM_017012195.1:c.773T>G	XP_016867684.1:p.Met258Arg
XM_017012196.1:c.746T>G	XP_016867685.1:p.Met249Arg
NM_000238.4:c.923T>G MANE Select	NP_000229.1:p.Met308Arg