Canonical Allele Identifier: CA369861589

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654464A>C (hg19) ; chr7:g.150957376A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957376A>C , CM000669.2:g.150957376A>C	GRCh38
NC_000007.13:g.150654464A>C , CM000669.1:g.150654464A>C	GRCh37
NC_000007.12:g.150285397A>C	NCBI36
NG_008916.1:g.25551T>G , LRG_288:g.25551T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1876T>G
ENST00000262186.10:c.1043T>G MANE Select	ENSP00000262186.5:p.Phe348Cys
ENST00000262186.9:c.1043T>G	ENSP00000262186.5:p.Phe348Cys
ENST00000430723.4:c.695T>G	ENSP00000387657.4:p.Phe232Cys
ENST00000532957.5:n.1266T>G
NM_000238.3:c.1043T>G , LRG_288t1:c.1043T>G	NP_000229.1:p.Phe348Cys
NM_172056.2:c.1043T>G , LRG_288t2:c.1043T>G	NP_742053.1:p.Phe348Cys
XM_011516185.1:c.743T>G	XP_011514487.1:p.Phe248Cys
XM_011516186.1:c.1043T>G	XP_011514488.1:p.Phe348Cys
XM_011516185.2:c.743T>G	XP_011514487.1:p.Phe248Cys
XM_011516186.3:c.1043T>G	XP_011514488.1:p.Phe348Cys
XM_017012195.1:c.893T>G	XP_016867684.1:p.Phe298Cys
XM_017012196.1:c.866T>G	XP_016867685.1:p.Phe289Cys
NM_000238.4:c.1043T>G MANE Select	NP_000229.1:p.Phe348Cys