Canonical Allele Identifier: CA369860130

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649823A>G (hg19) ; chr7:g.150952735A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952735A>G , CM000669.2:g.150952735A>G	GRCh38
NC_000007.13:g.150649823A>G , CM000669.1:g.150649823A>G	GRCh37
NC_000007.12:g.150280756A>G	NCBI36
NG_008916.1:g.30192T>C , LRG_288:g.30192T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.545T>C
ENST00000684116.1:n.140T>C
ENST00000684241.1:n.2080T>C
ENST00000262186.10:c.1247T>C MANE Select	ENSP00000262186.5:p.Leu416Pro
ENST00000330883.9:c.227T>C	ENSP00000328531.4:p.Leu76Pro
ENST00000262186.9:c.1247T>C	ENSP00000262186.5:p.Leu416Pro
ENST00000330883.8:c.227T>C	ENSP00000328531.4:p.Leu76Pro
ENST00000430723.4:c.899T>C	ENSP00000387657.4:p.Leu300Pro
ENST00000461280.1:n.534T>C
ENST00000473610.5:n.552T>C
ENST00000532957.5:n.1470T>C
NM_000238.3:c.1247T>C , LRG_288t1:c.1247T>C	NP_000229.1:p.Leu416Pro
NM_001204798.1:c.227T>C	NP_001191727.1:p.Leu76Pro
NM_172056.2:c.1247T>C , LRG_288t2:c.1247T>C	NP_742053.1:p.Leu416Pro
NM_172057.2:c.227T>C , LRG_288t3:c.227T>C	NP_742054.1:p.Leu76Pro
XM_011516185.1:c.947T>C	XP_011514487.1:p.Leu316Pro
XM_011516186.1:c.1247T>C	XP_011514488.1:p.Leu416Pro
XM_011516185.2:c.947T>C	XP_011514487.1:p.Leu316Pro
XM_011516186.3:c.1247T>C	XP_011514488.1:p.Leu416Pro
XM_017012195.1:c.1097T>C	XP_016867684.1:p.Leu366Pro
XM_017012196.1:c.1070T>C	XP_016867685.1:p.Leu357Pro
NM_000238.4:c.1247T>C MANE Select	NP_000229.1:p.Leu416Pro
NM_001204798.2:c.227T>C	NP_001191727.1:p.Leu76Pro
NM_172057.3:c.227T>C	NP_742054.1:p.Leu76Pro