Canonical Allele Identifier: CA369856320

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647376T>G (hg19) ; chr7:g.150950288T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950288T>G , CM000669.2:g.150950288T>G	GRCh38
NC_000007.13:g.150647376T>G , CM000669.1:g.150647376T>G	GRCh37
NC_000007.12:g.150278309T>G	NCBI36
NG_008916.1:g.32639A>C , LRG_288:g.32639A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1576A>C
ENST00000684241.1:n.3111A>C
ENST00000262186.10:c.2278A>C MANE Select	ENSP00000262186.5:p.Thr760Pro
ENST00000330883.9:c.1258A>C	ENSP00000328531.4:p.Thr420Pro
ENST00000262186.9:c.2278A>C	ENSP00000262186.5:p.Thr760Pro
ENST00000330883.8:c.1258A>C	ENSP00000328531.4:p.Thr420Pro
ENST00000430723.4:c.1930A>C	ENSP00000387657.4:p.Thr644Pro
ENST00000461280.1:n.1565A>C
ENST00000473610.5:n.1910A>C
ENST00000532957.5:n.2501A>C
NM_000238.3:c.2278A>C , LRG_288t1:c.2278A>C	NP_000229.1:p.Thr760Pro
NM_001204798.1:c.1258A>C	NP_001191727.1:p.Thr420Pro
NM_172056.2:c.2278A>C , LRG_288t2:c.2278A>C	NP_742053.1:p.Thr760Pro
NM_172057.2:c.1258A>C , LRG_288t3:c.1258A>C	NP_742054.1:p.Thr420Pro
XM_011516185.1:c.1978A>C	XP_011514487.1:p.Thr660Pro
XM_011516186.1:c.2278A>C	XP_011514488.1:p.Thr760Pro
XM_011516185.2:c.1978A>C	XP_011514487.1:p.Thr660Pro
XM_011516186.3:c.2278A>C	XP_011514488.1:p.Thr760Pro
XM_017012195.1:c.2128A>C	XP_016867684.1:p.Thr710Pro
XM_017012196.1:c.2101A>C	XP_016867685.1:p.Thr701Pro
NM_000238.4:c.2278A>C MANE Select	NP_000229.1:p.Thr760Pro
NM_001204798.2:c.1258A>C	NP_001191727.1:p.Thr420Pro
NM_172057.3:c.1258A>C	NP_742054.1:p.Thr420Pro