Canonical Allele Identifier: CA369865376

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 3072504
• ClinVar RCV Id: RCV004013526
• dbSNP Id: rs1430857007
• gnomAD v3: 7-150974741-T-G
• gnomAD v4: 7-150974741-T-G
• MyVariant Identifiers: chr7:g.150671829T>G (hg19) ; chr7:g.150974741T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974741T>G , CM000669.2:g.150974741T>G	GRCh38
NC_000007.13:g.150671829T>G , CM000669.1:g.150671829T>G	GRCh37
NC_000007.12:g.150302762T>G	NCBI36
NG_008916.1:g.8186A>C , LRG_288:g.8186A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.277A>C MANE Select	ENSP00000262186.5:p.Lys93Gln
ENST00000262186.9:c.277A>C	ENSP00000262186.5:p.Lys93Gln
ENST00000430723.4:c.100A>C	ENSP00000387657.4:p.Lys34Gln
ENST00000532957.5:n.500A>C
NM_000238.3:c.277A>C , LRG_288t1:c.277A>C	NP_000229.1:p.Lys93Gln
NM_172056.2:c.277A>C , LRG_288t2:c.277A>C	NP_742053.1:p.Lys93Gln
XM_011516186.1:c.277A>C	XP_011514488.1:p.Lys93Gln
XM_011516186.3:c.277A>C	XP_011514488.1:p.Lys93Gln
XM_017012196.1:c.100A>C	XP_016867685.1:p.Lys34Gln
NM_000238.4:c.277A>C MANE Select	NP_000229.1:p.Lys93Gln