Canonical Allele Identifier: CA2685607720

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 3070355
• ClinVar RCV Id: RCV004011873
• gnomAD v4: 7-150977928-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977928C>G , CM000669.2:g.150977928C>G	GRCh38
NC_000007.13:g.150675016C>G , CM000669.1:g.150675016C>G	GRCh37
NC_000007.12:g.150305949C>G	NCBI36
NG_008916.1:g.4999G>C , LRG_288:g.4999G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.-15G>C MANE Select	ENSP00000262186.5:n.-15G>C
ENST00000262186.9:c.-15G>C	ENSP00000262186.5:n.-15G>C
ENST00000430723.4:c.-192G>C	ENSP00000387657.4:n.-192G>C
ENST00000532957.5:n.209G>C
NM_000238.3:c.-15G>C , LRG_288t1:c.-15G>C	NP_000229.1:n.-15G>C
NM_172056.2:c.-15G>C , LRG_288t2:c.-15G>C	NP_742053.1:n.-15G>C
XM_011516186.1:c.-15G>C	XP_011514488.1:n.-15G>C
XM_011516186.3:c.-15G>C	XP_011514488.1:n.-15G>C
NM_000238.4:c.-15G>C MANE Select	NP_000229.1:n.-15G>C