Canonical Allele Identifier: CA369861927

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2726305
• ClinVar RCV Id: RCV003531407
• dbSNP Id: rs775056804
• gnomAD v3: 7-150957492-G-C
• gnomAD v4: 7-150957492-G-C
• MyVariant Identifiers: chr7:g.150654580G>C (hg19) ; chr7:g.150957492G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957492G>C , CM000669.2:g.150957492G>C	GRCh38
NC_000007.13:g.150654580G>C , CM000669.1:g.150654580G>C	GRCh37
NC_000007.12:g.150285513G>C	NCBI36
NG_008916.1:g.25435C>G , LRG_288:g.25435C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1760C>G
ENST00000262186.10:c.927C>G MANE Select	ENSP00000262186.5:p.His309Gln
ENST00000262186.9:c.927C>G	ENSP00000262186.5:p.His309Gln
ENST00000430723.4:c.579C>G	ENSP00000387657.4:p.His193Gln
ENST00000532957.5:n.1150C>G
NM_000238.3:c.927C>G , LRG_288t1:c.927C>G	NP_000229.1:p.His309Gln
NM_172056.2:c.927C>G , LRG_288t2:c.927C>G	NP_742053.1:p.His309Gln
XM_011516185.1:c.627C>G	XP_011514487.1:p.His209Gln
XM_011516186.1:c.927C>G	XP_011514488.1:p.His309Gln
XM_011516185.2:c.627C>G	XP_011514487.1:p.His209Gln
XM_011516186.3:c.927C>G	XP_011514488.1:p.His309Gln
XM_017012195.1:c.777C>G	XP_016867684.1:p.His259Gln
XM_017012196.1:c.750C>G	XP_016867685.1:p.His250Gln
NM_000238.4:c.927C>G MANE Select	NP_000229.1:p.His309Gln