Canonical Allele Identifier: CA369861527

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1172314
• ClinVar RCV Id: RCV001842146
• dbSNP Id: rs2116997537
• MyVariant Identifiers: chr7:g.150654434A>T (hg19) ; chr7:g.150957346A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957346A>T , CM000669.2:g.150957346A>T	GRCh38
NC_000007.13:g.150654434A>T , CM000669.1:g.150654434A>T	GRCh37
NC_000007.12:g.150285367A>T	NCBI36
NG_008916.1:g.25581T>A , LRG_288:g.25581T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1906T>A
ENST00000262186.10:c.1073T>A MANE Select	ENSP00000262186.5:p.Ile358Asn
ENST00000262186.9:c.1073T>A	ENSP00000262186.5:p.Ile358Asn
ENST00000430723.4:c.725T>A	ENSP00000387657.4:p.Ile242Asn
ENST00000532957.5:n.1296T>A
NM_000238.3:c.1073T>A , LRG_288t1:c.1073T>A	NP_000229.1:p.Ile358Asn
NM_172056.2:c.1073T>A , LRG_288t2:c.1073T>A	NP_742053.1:p.Ile358Asn
XM_011516185.1:c.773T>A	XP_011514487.1:p.Ile258Asn
XM_011516186.1:c.1073T>A	XP_011514488.1:p.Ile358Asn
XM_011516185.2:c.773T>A	XP_011514487.1:p.Ile258Asn
XM_011516186.3:c.1073T>A	XP_011514488.1:p.Ile358Asn
XM_017012195.1:c.923T>A	XP_016867684.1:p.Ile308Asn
XM_017012196.1:c.896T>A	XP_016867685.1:p.Ile299Asn
NM_000238.4:c.1073T>A MANE Select	NP_000229.1:p.Ile358Asn