Canonical Allele Identifier: CA369859812

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649661T>C (hg19) ; chr7:g.150952573T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952573T>C , CM000669.2:g.150952573T>C	GRCh38
NC_000007.13:g.150649661T>C , CM000669.1:g.150649661T>C	GRCh37
NC_000007.12:g.150280594T>C	NCBI36
NG_008916.1:g.30354A>G , LRG_288:g.30354A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.707A>G
ENST00000684116.1:n.302A>G
ENST00000684241.1:n.2242A>G
ENST00000262186.10:c.1409A>G MANE Select	ENSP00000262186.5:p.Asn470Ser
ENST00000330883.9:c.389A>G	ENSP00000328531.4:p.Asn130Ser
ENST00000262186.9:c.1409A>G	ENSP00000262186.5:p.Asn470Ser
ENST00000330883.8:c.389A>G	ENSP00000328531.4:p.Asn130Ser
ENST00000430723.4:c.1061A>G	ENSP00000387657.4:p.Asn354Ser
ENST00000461280.1:n.696A>G
ENST00000473610.5:n.714A>G
ENST00000532957.5:n.1632A>G
NM_000238.3:c.1409A>G , LRG_288t1:c.1409A>G	NP_000229.1:p.Asn470Ser
NM_001204798.1:c.389A>G	NP_001191727.1:p.Asn130Ser
NM_172056.2:c.1409A>G , LRG_288t2:c.1409A>G	NP_742053.1:p.Asn470Ser
NM_172057.2:c.389A>G , LRG_288t3:c.389A>G	NP_742054.1:p.Asn130Ser
XM_011516185.1:c.1109A>G	XP_011514487.1:p.Asn370Ser
XM_011516186.1:c.1409A>G	XP_011514488.1:p.Asn470Ser
XM_011516185.2:c.1109A>G	XP_011514487.1:p.Asn370Ser
XM_011516186.3:c.1409A>G	XP_011514488.1:p.Asn470Ser
XM_017012195.1:c.1259A>G	XP_016867684.1:p.Asn420Ser
XM_017012196.1:c.1232A>G	XP_016867685.1:p.Asn411Ser
NM_000238.4:c.1409A>G MANE Select	NP_000229.1:p.Asn470Ser
NM_001204798.2:c.389A>G	NP_001191727.1:p.Asn130Ser
NM_172057.3:c.389A>G	NP_742054.1:p.Asn130Ser