Canonical Allele Identifier: CA369863786

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 859531
• ClinVar RCV Id: RCV001065664
• dbSNP Id: rs1801499760
• MyVariant Identifiers: chr7:g.150656755A>T (hg19) ; chr7:g.150959667A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959667A>T , CM000669.2:g.150959667A>T	GRCh38
NC_000007.13:g.150656755A>T , CM000669.1:g.150656755A>T	GRCh37
NC_000007.12:g.150287688A>T	NCBI36
NG_008916.1:g.23260T>A , LRG_288:g.23260T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1210T>A
ENST00000262186.10:c.377T>A MANE Select	ENSP00000262186.5:p.Ile126Asn
ENST00000262186.9:c.377T>A	ENSP00000262186.5:p.Ile126Asn
ENST00000430723.4:c.200T>A	ENSP00000387657.4:p.Ile67Asn
ENST00000532957.5:n.600T>A
NM_000238.3:c.377T>A , LRG_288t1:c.377T>A	NP_000229.1:p.Ile126Asn
NM_172056.2:c.377T>A , LRG_288t2:c.377T>A	NP_742053.1:p.Ile126Asn
XM_011516185.1:c.77T>A	XP_011514487.1:p.Ile26Asn
XM_011516186.1:c.377T>A	XP_011514488.1:p.Ile126Asn
XM_011516185.2:c.77T>A	XP_011514487.1:p.Ile26Asn
XM_011516186.3:c.377T>A	XP_011514488.1:p.Ile126Asn
XM_017012195.1:c.227T>A	XP_016867684.1:p.Ile76Asn
XM_017012196.1:c.200T>A	XP_016867685.1:p.Ile67Asn
NM_000238.4:c.377T>A MANE Select	NP_000229.1:p.Ile126Asn