Canonical Allele Identifier: CA369862140

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150655176A>C (hg19) ; chr7:g.150958088A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958088A>C , CM000669.2:g.150958088A>C	GRCh38
NC_000007.13:g.150655176A>C , CM000669.1:g.150655176A>C	GRCh37
NC_000007.12:g.150286109A>C	NCBI36
NG_008916.1:g.24839T>G , LRG_288:g.24839T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1720T>G
ENST00000262186.10:c.887T>G MANE Select	ENSP00000262186.5:p.Leu296Arg
ENST00000262186.9:c.887T>G	ENSP00000262186.5:p.Leu296Arg
ENST00000430723.4:c.539T>G	ENSP00000387657.4:p.Leu180Arg
ENST00000532957.5:n.1110T>G
NM_000238.3:c.887T>G , LRG_288t1:c.887T>G	NP_000229.1:p.Leu296Arg
NM_172056.2:c.887T>G , LRG_288t2:c.887T>G	NP_742053.1:p.Leu296Arg
XM_011516185.1:c.587T>G	XP_011514487.1:p.Leu196Arg
XM_011516186.1:c.887T>G	XP_011514488.1:p.Leu296Arg
XM_011516185.2:c.587T>G	XP_011514487.1:p.Leu196Arg
XM_011516186.3:c.887T>G	XP_011514488.1:p.Leu296Arg
XM_017012195.1:c.737T>G	XP_016867684.1:p.Leu246Arg
XM_017012196.1:c.710T>G	XP_016867685.1:p.Leu237Arg
NM_000238.4:c.887T>G MANE Select	NP_000229.1:p.Leu296Arg