Canonical Allele Identifier: CA458871674

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649711A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952623A>G , CM000669.2:g.150952623A>G	GRCh38
NC_000007.13:g.150649711A>G , CM000669.1:g.150649711A>G	GRCh37
NC_000007.12:g.150280644A>G	NCBI36
NG_008916.1:g.30304T>C , LRG_288:g.30304T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.657T>C
ENST00000684116.1:n.252T>C
ENST00000684241.1:n.2192T>C
ENST00000262186.10:c.1359T>C MANE Select	ENSP00000262186.5:p.Ala453=
ENST00000330883.9:c.339T>C	ENSP00000328531.4:p.Ala113=
ENST00000262186.9:c.1359T>C	ENSP00000262186.5:p.Ala453=
ENST00000330883.8:c.339T>C	ENSP00000328531.4:p.Ala113=
ENST00000430723.4:c.1011T>C	ENSP00000387657.4:p.Ala337=
ENST00000461280.1:n.646T>C
ENST00000473610.5:n.664T>C
ENST00000532957.5:n.1582T>C
NM_000238.3:c.1359T>C , LRG_288t1:c.1359T>C	NP_000229.1:p.Ala453=
NM_001204798.1:c.339T>C	NP_001191727.1:p.Ala113=
NM_172056.2:c.1359T>C , LRG_288t2:c.1359T>C	NP_742053.1:p.Ala453=
NM_172057.2:c.339T>C , LRG_288t3:c.339T>C	NP_742054.1:p.Ala113=
XM_011516185.1:c.1059T>C	XP_011514487.1:p.Ala353=
XM_011516186.1:c.1359T>C	XP_011514488.1:p.Ala453=
XM_011516185.2:c.1059T>C	XP_011514487.1:p.Ala353=
XM_011516186.3:c.1359T>C	XP_011514488.1:p.Ala453=
XM_017012195.1:c.1209T>C	XP_016867684.1:p.Ala403=
XM_017012196.1:c.1182T>C	XP_016867685.1:p.Ala394=
NM_000238.4:c.1359T>C MANE Select	NP_000229.1:p.Ala453=
NM_001204798.2:c.339T>C	NP_001191727.1:p.Ala113=
NM_172057.3:c.339T>C	NP_742054.1:p.Ala113=