Canonical Allele Identifier: CA2685607679

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2773460
• ClinVar RCV Id: RCV003592285 ; RCV004011473
• gnomAD v4: 7-150977923-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977923A>C , CM000669.2:g.150977923A>C	GRCh38
NC_000007.13:g.150675011A>C , CM000669.1:g.150675011A>C	GRCh37
NC_000007.12:g.150305944A>C	NCBI36
NG_008916.1:g.5004T>G , LRG_288:g.5004T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.-10T>G MANE Select	ENSP00000262186.5:n.-10T>G
ENST00000262186.9:c.-10T>G	ENSP00000262186.5:n.-10T>G
ENST00000430723.4:c.-187T>G	ENSP00000387657.4:n.-187T>G
ENST00000532957.5:n.214T>G
NM_000238.3:c.-10T>G , LRG_288t1:c.-10T>G	NP_000229.1:n.-10T>G
NM_172056.2:c.-10T>G , LRG_288t2:c.-10T>G	NP_742053.1:n.-10T>G
XM_011516186.1:c.-10T>G	XP_011514488.1:n.-10T>G
XM_011516186.3:c.-10T>G	XP_011514488.1:n.-10T>G
NM_000238.4:c.-10T>G MANE Select	NP_000229.1:n.-10T>G