Canonical Allele Identifier: CA072647

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150952667-C-T
• MyVariant Identifiers: chr7:g.150649755C>T (hg19) ; chr7:g.150952667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952667C>T , CM000669.2:g.150952667C>T	GRCh38
NC_000007.13:g.150649755C>T , CM000669.1:g.150649755C>T	GRCh37
NC_000007.12:g.150280688C>T	NCBI36
NG_008916.1:g.30260G>A , LRG_288:g.30260G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.613G>A
ENST00000684116.1:n.208G>A
ENST00000684241.1:n.2148G>A
ENST00000262186.10:c.1315G>A MANE Select	ENSP00000262186.5:p.Gly439Ser
ENST00000330883.9:c.295G>A	ENSP00000328531.4:p.Gly99Ser
ENST00000262186.9:c.1315G>A	ENSP00000262186.5:p.Gly439Ser
ENST00000330883.8:c.295G>A	ENSP00000328531.4:p.Gly99Ser
ENST00000430723.4:c.967G>A	ENSP00000387657.4:p.Gly323Ser
ENST00000461280.1:n.602G>A
ENST00000473610.5:n.620G>A
ENST00000532957.5:n.1538G>A
NM_000238.3:c.1315G>A , LRG_288t1:c.1315G>A	NP_000229.1:p.Gly439Ser
NM_001204798.1:c.295G>A	NP_001191727.1:p.Gly99Ser
NM_172056.2:c.1315G>A , LRG_288t2:c.1315G>A	NP_742053.1:p.Gly439Ser
NM_172057.2:c.295G>A , LRG_288t3:c.295G>A	NP_742054.1:p.Gly99Ser
XM_011516185.1:c.1015G>A	XP_011514487.1:p.Gly339Ser
XM_011516186.1:c.1315G>A	XP_011514488.1:p.Gly439Ser
XM_011516185.2:c.1015G>A	XP_011514487.1:p.Gly339Ser
XM_011516186.3:c.1315G>A	XP_011514488.1:p.Gly439Ser
XM_017012195.1:c.1165G>A	XP_016867684.1:p.Gly389Ser
XM_017012196.1:c.1138G>A	XP_016867685.1:p.Gly380Ser
NM_000238.4:c.1315G>A MANE Select	NP_000229.1:p.Gly439Ser
NM_001204798.2:c.295G>A	NP_001191727.1:p.Gly99Ser
NM_172057.3:c.295G>A	NP_742054.1:p.Gly99Ser