Canonical Allele Identifier: CA369860186

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649850T>G (hg19) ; chr7:g.150952762T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952762T>G , CM000669.2:g.150952762T>G	GRCh38
NC_000007.13:g.150649850T>G , CM000669.1:g.150649850T>G	GRCh37
NC_000007.12:g.150280783T>G	NCBI36
NG_008916.1:g.30165A>C , LRG_288:g.30165A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.518A>C
ENST00000684116.1:n.113A>C
ENST00000684241.1:n.2053A>C
ENST00000262186.10:c.1220A>C MANE Select	ENSP00000262186.5:p.Lys407Thr
ENST00000330883.9:c.200A>C	ENSP00000328531.4:p.Lys67Thr
ENST00000262186.9:c.1220A>C	ENSP00000262186.5:p.Lys407Thr
ENST00000330883.8:c.200A>C	ENSP00000328531.4:p.Lys67Thr
ENST00000430723.4:c.872A>C	ENSP00000387657.4:p.Lys291Thr
ENST00000461280.1:n.507A>C
ENST00000473610.5:n.525A>C
ENST00000532957.5:n.1443A>C
NM_000238.3:c.1220A>C , LRG_288t1:c.1220A>C	NP_000229.1:p.Lys407Thr
NM_001204798.1:c.200A>C	NP_001191727.1:p.Lys67Thr
NM_172056.2:c.1220A>C , LRG_288t2:c.1220A>C	NP_742053.1:p.Lys407Thr
NM_172057.2:c.200A>C , LRG_288t3:c.200A>C	NP_742054.1:p.Lys67Thr
XM_011516185.1:c.920A>C	XP_011514487.1:p.Lys307Thr
XM_011516186.1:c.1220A>C	XP_011514488.1:p.Lys407Thr
XM_011516185.2:c.920A>C	XP_011514487.1:p.Lys307Thr
XM_011516186.3:c.1220A>C	XP_011514488.1:p.Lys407Thr
XM_017012195.1:c.1070A>C	XP_016867684.1:p.Lys357Thr
XM_017012196.1:c.1043A>C	XP_016867685.1:p.Lys348Thr
NM_000238.4:c.1220A>C MANE Select	NP_000229.1:p.Lys407Thr
NM_001204798.2:c.200A>C	NP_001191727.1:p.Lys67Thr
NM_172057.3:c.200A>C	NP_742054.1:p.Lys67Thr