Canonical Allele Identifier: CA369859556

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649553A>G (hg19) ; chr7:g.150952465A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952465A>G , CM000669.2:g.150952465A>G	GRCh38
NC_000007.13:g.150649553A>G , CM000669.1:g.150649553A>G	GRCh37
NC_000007.12:g.150280486A>G	NCBI36
NG_008916.1:g.30462T>C , LRG_288:g.30462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.815T>C
ENST00000684116.1:n.410T>C
ENST00000684241.1:n.2350T>C
ENST00000262186.10:c.1517T>C MANE Select	ENSP00000262186.5:p.Ile506Thr
ENST00000330883.9:c.497T>C	ENSP00000328531.4:p.Ile166Thr
ENST00000262186.9:c.1517T>C	ENSP00000262186.5:p.Ile506Thr
ENST00000330883.8:c.497T>C	ENSP00000328531.4:p.Ile166Thr
ENST00000430723.4:c.1169T>C	ENSP00000387657.4:p.Ile390Thr
ENST00000461280.1:n.804T>C
ENST00000473610.5:n.822T>C
ENST00000532957.5:n.1740T>C
NM_000238.3:c.1517T>C , LRG_288t1:c.1517T>C	NP_000229.1:p.Ile506Thr
NM_001204798.1:c.497T>C	NP_001191727.1:p.Ile166Thr
NM_172056.2:c.1517T>C , LRG_288t2:c.1517T>C	NP_742053.1:p.Ile506Thr
NM_172057.2:c.497T>C , LRG_288t3:c.497T>C	NP_742054.1:p.Ile166Thr
XM_011516185.1:c.1217T>C	XP_011514487.1:p.Ile406Thr
XM_011516186.1:c.1517T>C	XP_011514488.1:p.Ile506Thr
XM_011516185.2:c.1217T>C	XP_011514487.1:p.Ile406Thr
XM_011516186.3:c.1517T>C	XP_011514488.1:p.Ile506Thr
XM_017012195.1:c.1367T>C	XP_016867684.1:p.Ile456Thr
XM_017012196.1:c.1340T>C	XP_016867685.1:p.Ile447Thr
NM_000238.4:c.1517T>C MANE Select	NP_000229.1:p.Ile506Thr
NM_001204798.2:c.497T>C	NP_001191727.1:p.Ile166Thr
NM_172057.3:c.497T>C	NP_742054.1:p.Ile166Thr