Canonical Allele Identifier: CA369862056

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2064900
• ClinVar RCV Id: RCV002953776
• gnomAD v4: 7-150958064-C-T
• MyVariant Identifiers: chr7:g.150655152C>T (hg19) ; chr7:g.150958064C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958064C>T , CM000669.2:g.150958064C>T	GRCh38
NC_000007.13:g.150655152C>T , CM000669.1:g.150655152C>T	GRCh37
NC_000007.12:g.150286085C>T	NCBI36
NG_008916.1:g.24863G>A , LRG_288:g.24863G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1744G>A
ENST00000262186.10:c.911G>A MANE Select	ENSP00000262186.5:p.Ser304Asn
ENST00000262186.9:c.911G>A	ENSP00000262186.5:p.Ser304Asn
ENST00000430723.4:c.563G>A	ENSP00000387657.4:p.Ser188Asn
ENST00000532957.5:n.1134G>A
NM_000238.3:c.911G>A , LRG_288t1:c.911G>A	NP_000229.1:p.Ser304Asn
NM_172056.2:c.911G>A , LRG_288t2:c.911G>A	NP_742053.1:p.Ser304Asn
XM_011516185.1:c.611G>A	XP_011514487.1:p.Ser204Asn
XM_011516186.1:c.911G>A	XP_011514488.1:p.Ser304Asn
XM_011516185.2:c.611G>A	XP_011514487.1:p.Ser204Asn
XM_011516186.3:c.911G>A	XP_011514488.1:p.Ser304Asn
XM_017012195.1:c.761G>A	XP_016867684.1:p.Ser254Asn
XM_017012196.1:c.734G>A	XP_016867685.1:p.Ser245Asn
NM_000238.4:c.911G>A MANE Select	NP_000229.1:p.Ser304Asn