Canonical Allele Identifier: CA458871656

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801219615
• gnomAD v4: 7-150952590-A-G
• MyVariant Identifiers: chr7:g.150649678A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952590A>G , CM000669.2:g.150952590A>G	GRCh38
NC_000007.13:g.150649678A>G , CM000669.1:g.150649678A>G	GRCh37
NC_000007.12:g.150280611A>G	NCBI36
NG_008916.1:g.30337T>C , LRG_288:g.30337T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.690T>C
ENST00000684116.1:n.285T>C
ENST00000684241.1:n.2225T>C
ENST00000262186.10:c.1392T>C MANE Select	ENSP00000262186.5:p.Ile464=
ENST00000330883.9:c.372T>C	ENSP00000328531.4:p.Ile124=
ENST00000262186.9:c.1392T>C	ENSP00000262186.5:p.Ile464=
ENST00000330883.8:c.372T>C	ENSP00000328531.4:p.Ile124=
ENST00000430723.4:c.1044T>C	ENSP00000387657.4:p.Ile348=
ENST00000461280.1:n.679T>C
ENST00000473610.5:n.697T>C
ENST00000532957.5:n.1615T>C
NM_000238.3:c.1392T>C , LRG_288t1:c.1392T>C	NP_000229.1:p.Ile464=
NM_001204798.1:c.372T>C	NP_001191727.1:p.Ile124=
NM_172056.2:c.1392T>C , LRG_288t2:c.1392T>C	NP_742053.1:p.Ile464=
NM_172057.2:c.372T>C , LRG_288t3:c.372T>C	NP_742054.1:p.Ile124=
XM_011516185.1:c.1092T>C	XP_011514487.1:p.Ile364=
XM_011516186.1:c.1392T>C	XP_011514488.1:p.Ile464=
XM_011516185.2:c.1092T>C	XP_011514487.1:p.Ile364=
XM_011516186.3:c.1392T>C	XP_011514488.1:p.Ile464=
XM_017012195.1:c.1242T>C	XP_016867684.1:p.Ile414=
XM_017012196.1:c.1215T>C	XP_016867685.1:p.Ile405=
NM_000238.4:c.1392T>C MANE Select	NP_000229.1:p.Ile464=
NM_001204798.2:c.372T>C	NP_001191727.1:p.Ile124=
NM_172057.3:c.372T>C	NP_742054.1:p.Ile124=