Canonical Allele Identifier: CA369858816

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648802A>G (hg19) ; chr7:g.150951714A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951714A>G , CM000669.2:g.150951714A>G	GRCh38
NC_000007.13:g.150648802A>G , CM000669.1:g.150648802A>G	GRCh37
NC_000007.12:g.150279735A>G	NCBI36
NG_008916.1:g.31213T>C , LRG_288:g.31213T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.977T>C
ENST00000684241.1:n.2512T>C
ENST00000262186.10:c.1679T>C MANE Select	ENSP00000262186.5:p.Ile560Thr
ENST00000330883.9:c.659T>C	ENSP00000328531.4:p.Ile220Thr
ENST00000262186.9:c.1679T>C	ENSP00000262186.5:p.Ile560Thr
ENST00000330883.8:c.659T>C	ENSP00000328531.4:p.Ile220Thr
ENST00000430723.4:c.1331T>C	ENSP00000387657.4:p.Ile444Thr
ENST00000461280.1:n.966T>C
ENST00000473610.5:n.984T>C
ENST00000532957.5:n.1902T>C
NM_000238.3:c.1679T>C , LRG_288t1:c.1679T>C	NP_000229.1:p.Ile560Thr
NM_001204798.1:c.659T>C	NP_001191727.1:p.Ile220Thr
NM_172056.2:c.1679T>C , LRG_288t2:c.1679T>C	NP_742053.1:p.Ile560Thr
NM_172057.2:c.659T>C , LRG_288t3:c.659T>C	NP_742054.1:p.Ile220Thr
XM_011516185.1:c.1379T>C	XP_011514487.1:p.Ile460Thr
XM_011516186.1:c.1679T>C	XP_011514488.1:p.Ile560Thr
XM_011516185.2:c.1379T>C	XP_011514487.1:p.Ile460Thr
XM_011516186.3:c.1679T>C	XP_011514488.1:p.Ile560Thr
XM_017012195.1:c.1529T>C	XP_016867684.1:p.Ile510Thr
XM_017012196.1:c.1502T>C	XP_016867685.1:p.Ile501Thr
NM_000238.4:c.1679T>C MANE Select	NP_000229.1:p.Ile560Thr
NM_001204798.2:c.659T>C	NP_001191727.1:p.Ile220Thr
NM_172057.3:c.659T>C	NP_742054.1:p.Ile220Thr