Canonical Allele Identifier: CA034895

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1052852
• ClinVar RCV Id: RCV001361114
• dbSNP Id: rs756115394
• ExAC: 7:150671826 C / G
• gnomAD v4: 7-150974738-C-G
• MyVariant Identifiers: chr7:g.150671826C>G (hg19) ; chr7:g.150974738C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974738C>G , CM000669.2:g.150974738C>G	GRCh38
NC_000007.13:g.150671826C>G , CM000669.1:g.150671826C>G	GRCh37
NC_000007.12:g.150302759C>G	NCBI36
NG_008916.1:g.8189G>C , LRG_288:g.8189G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.280G>C MANE Select	ENSP00000262186.5:p.Val94Leu
ENST00000262186.9:c.280G>C	ENSP00000262186.5:p.Val94Leu
ENST00000430723.4:c.103G>C	ENSP00000387657.4:p.Val35Leu
ENST00000532957.5:n.503G>C
NM_000238.3:c.280G>C , LRG_288t1:c.280G>C	NP_000229.1:p.Val94Leu
NM_172056.2:c.280G>C , LRG_288t2:c.280G>C	NP_742053.1:p.Val94Leu
XM_011516186.1:c.280G>C	XP_011514488.1:p.Val94Leu
XM_011516186.3:c.280G>C	XP_011514488.1:p.Val94Leu
XM_017012196.1:c.103G>C	XP_016867685.1:p.Val35Leu
NM_000238.4:c.280G>C MANE Select	NP_000229.1:p.Val94Leu