Canonical Allele Identifier: CA578707843

Gene: KCNH2

Linked Data

• dbSNP Id: rs1445458509
• gnomAD v2: 7-150674876-T-C
• gnomAD v3: 7-150977788-T-C
• gnomAD v4: 7-150977788-T-C
• MyVariant Identifiers: chr7:g.150674876T>C (hg19) ; chr7:g.150977788T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977788T>C , CM000669.2:g.150977788T>C	GRCh38
NC_000007.13:g.150674876T>C , CM000669.1:g.150674876T>C	GRCh37
NC_000007.12:g.150305809T>C	NCBI36
NG_008916.1:g.5139A>G , LRG_288:g.5139A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+50A>G MANE Select	ENSP00000262186.5:n.76+50A>G
ENST00000262186.9:c.76+50A>G	ENSP00000262186.5:n.76+50A>G
ENST00000430723.4:c.-102+50A>G	ENSP00000387657.4:n.-102+50A>G
ENST00000532957.5:n.299+50A>G
NM_000238.3:c.76+50A>G , LRG_288t1:c.76+50A>G	NP_000229.1:n.76+50A>G
NM_172056.2:c.76+50A>G , LRG_288t2:c.76+50A>G	NP_742053.1:n.76+50A>G
XM_011516186.1:c.76+50A>G	XP_011514488.1:n.76+50A>G
XM_011516186.3:c.76+50A>G	XP_011514488.1:n.76+50A>G
NM_000238.4:c.76+50A>G MANE Select	NP_000229.1:n.76+50A>G