Canonical Allele Identifier: CA169090099

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1204635
• ClinVar RCV Id: RCV001571039
• dbSNP Id: rs116568934
• gnomAD v2: 7-150671487-C-G
• gnomAD v3: 7-150974399-C-G
• gnomAD v4: 7-150974399-C-G
• MyVariant Identifiers: chr7:g.150671487C>G (hg19) ; chr7:g.150974399C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974399C>G , CM000669.2:g.150974399C>G	GRCh38
NC_000007.13:g.150671487C>G , CM000669.1:g.150671487C>G	GRCh37
NC_000007.12:g.150302420C>G	NCBI36
NG_008916.1:g.8528G>C , LRG_288:g.8528G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+312G>C MANE Select	ENSP00000262186.5:n.307+312G>C
ENST00000262186.9:c.307+312G>C	ENSP00000262186.5:n.307+312G>C
ENST00000430723.4:c.130+312G>C	ENSP00000387657.4:n.130+312G>C
ENST00000532957.5:n.530+312G>C
NM_000238.3:c.307+312G>C , LRG_288t1:c.307+312G>C	NP_000229.1:n.307+312G>C
NM_172056.2:c.307+312G>C , LRG_288t2:c.307+312G>C	NP_742053.1:n.307+312G>C
XM_011516186.1:c.307+312G>C	XP_011514488.1:n.307+312G>C
XM_011516185.2:c.-23G>C	XP_011514487.1:n.-23G>C
XM_011516186.3:c.307+312G>C	XP_011514488.1:n.307+312G>C
XM_017012196.1:c.130+312G>C	XP_016867685.1:n.130+312G>C
NM_000238.4:c.307+312G>C MANE Select	NP_000229.1:n.307+312G>C