Canonical Allele Identifier: CA458645497

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648204G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951116G>C , CM000669.2:g.150951116G>C	GRCh38
NC_000007.13:g.150648204G>C , CM000669.1:g.150648204G>C	GRCh37
NC_000007.12:g.150279137G>C	NCBI36
NG_008916.1:g.31811C>G , LRG_288:g.31811C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1248C>G
ENST00000683359.1:n.74C>G
ENST00000684241.1:n.2783C>G
ENST00000262186.10:c.1950C>G MANE Select	ENSP00000262186.5:p.Leu650=
ENST00000330883.9:c.930C>G	ENSP00000328531.4:p.Leu310=
ENST00000262186.9:c.1950C>G	ENSP00000262186.5:p.Leu650=
ENST00000330883.8:c.930C>G	ENSP00000328531.4:p.Leu310=
ENST00000430723.4:c.1602C>G	ENSP00000387657.4:p.Leu534=
ENST00000461280.1:n.1237C>G
ENST00000473610.5:n.1582C>G
ENST00000532957.5:n.2173C>G
NM_000238.3:c.1950C>G , LRG_288t1:c.1950C>G	NP_000229.1:p.Leu650=
NM_001204798.1:c.930C>G	NP_001191727.1:p.Leu310=
NM_172056.2:c.1950C>G , LRG_288t2:c.1950C>G	NP_742053.1:p.Leu650=
NM_172057.2:c.930C>G , LRG_288t3:c.930C>G	NP_742054.1:p.Leu310=
XM_011516185.1:c.1650C>G	XP_011514487.1:p.Leu550=
XM_011516186.1:c.1950C>G	XP_011514488.1:p.Leu650=
XM_011516185.2:c.1650C>G	XP_011514487.1:p.Leu550=
XM_011516186.3:c.1950C>G	XP_011514488.1:p.Leu650=
XM_017012195.1:c.1800C>G	XP_016867684.1:p.Leu600=
XM_017012196.1:c.1773C>G	XP_016867685.1:p.Leu591=
NM_000238.4:c.1950C>G MANE Select	NP_000229.1:p.Leu650=
NM_001204798.2:c.930C>G	NP_001191727.1:p.Leu310=
NM_172057.3:c.930C>G	NP_742054.1:p.Leu310=