Canonical Allele Identifier: CA369863378

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150655524A>C (hg19) ; chr7:g.150958436A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958436A>C , CM000669.2:g.150958436A>C	GRCh38
NC_000007.13:g.150655524A>C , CM000669.1:g.150655524A>C	GRCh37
NC_000007.12:g.150286457A>C	NCBI36
NG_008916.1:g.24491T>G , LRG_288:g.24491T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1372T>G
ENST00000262186.10:c.539T>G MANE Select	ENSP00000262186.5:p.Val180Gly
ENST00000262186.9:c.539T>G	ENSP00000262186.5:p.Val180Gly
ENST00000430723.4:c.235-44T>G	ENSP00000387657.4:n.235-44T>G
ENST00000532957.5:n.762T>G
NM_000238.3:c.539T>G , LRG_288t1:c.539T>G	NP_000229.1:p.Val180Gly
NM_172056.2:c.539T>G , LRG_288t2:c.539T>G	NP_742053.1:p.Val180Gly
XM_011516185.1:c.239T>G	XP_011514487.1:p.Val80Gly
XM_011516186.1:c.539T>G	XP_011514488.1:p.Val180Gly
XM_011516185.2:c.239T>G	XP_011514487.1:p.Val80Gly
XM_011516186.3:c.539T>G	XP_011514488.1:p.Val180Gly
XM_017012195.1:c.389T>G	XP_016867684.1:p.Val130Gly
XM_017012196.1:c.362T>G	XP_016867685.1:p.Val121Gly
NM_000238.4:c.539T>G MANE Select	NP_000229.1:p.Val180Gly