Canonical Allele Identifier: CA027508

Gene: KCNH2

Linked Data

• dbSNP Id: rs767891857
• ExAC: 7:150649795 T / C
• gnomAD v2: 7-150649795-T-C
• gnomAD v4: 7-150952707-T-C
• MyVariant Identifiers: chr7:g.150649795T>C (hg19) ; chr7:g.150952707T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952707T>C , CM000669.2:g.150952707T>C	GRCh38
NC_000007.13:g.150649795T>C , CM000669.1:g.150649795T>C	GRCh37
NC_000007.12:g.150280728T>C	NCBI36
NG_008916.1:g.30220A>G , LRG_288:g.30220A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.573A>G
ENST00000684116.1:n.168A>G
ENST00000684241.1:n.2108A>G
ENST00000262186.10:c.1275A>G MANE Select	ENSP00000262186.5:p.Thr425=
ENST00000330883.9:c.255A>G	ENSP00000328531.4:p.Thr85=
ENST00000262186.9:c.1275A>G	ENSP00000262186.5:p.Thr425=
ENST00000330883.8:c.255A>G	ENSP00000328531.4:p.Thr85=
ENST00000430723.4:c.927A>G	ENSP00000387657.4:p.Thr309=
ENST00000461280.1:n.562A>G
ENST00000473610.5:n.580A>G
ENST00000532957.5:n.1498A>G
NM_000238.3:c.1275A>G , LRG_288t1:c.1275A>G	NP_000229.1:p.Thr425=
NM_001204798.1:c.255A>G	NP_001191727.1:p.Thr85=
NM_172056.2:c.1275A>G , LRG_288t2:c.1275A>G	NP_742053.1:p.Thr425=
NM_172057.2:c.255A>G , LRG_288t3:c.255A>G	NP_742054.1:p.Thr85=
XM_011516185.1:c.975A>G	XP_011514487.1:p.Thr325=
XM_011516186.1:c.1275A>G	XP_011514488.1:p.Thr425=
XM_011516185.2:c.975A>G	XP_011514487.1:p.Thr325=
XM_011516186.3:c.1275A>G	XP_011514488.1:p.Thr425=
XM_017012195.1:c.1125A>G	XP_016867684.1:p.Thr375=
XM_017012196.1:c.1098A>G	XP_016867685.1:p.Thr366=
NM_000238.4:c.1275A>G MANE Select	NP_000229.1:p.Thr425=
NM_001204798.2:c.255A>G	NP_001191727.1:p.Thr85=
NM_172057.3:c.255A>G	NP_742054.1:p.Thr85=