Canonical Allele Identifier: CA458871487

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 3071396
• ClinVar RCV Id: RCV004015890
• dbSNP Id: rs1159620963
• gnomAD v2: 7-150648612-G-T
• gnomAD v4: 7-150951524-G-T
• MyVariant Identifiers: chr7:g.150648612G>T (hg19) ; chr7:g.150951524G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951524G>T , CM000669.2:g.150951524G>T	GRCh38
NC_000007.13:g.150648612G>T , CM000669.1:g.150648612G>T	GRCh37
NC_000007.12:g.150279545G>T	NCBI36
NG_008916.1:g.31403C>A , LRG_288:g.31403C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1167C>A
ENST00000684241.1:n.2702C>A
ENST00000262186.10:c.1869C>A MANE Select	ENSP00000262186.5:p.Thr623=
ENST00000330883.9:c.849C>A	ENSP00000328531.4:p.Thr283=
ENST00000262186.9:c.1869C>A	ENSP00000262186.5:p.Thr623=
ENST00000330883.8:c.849C>A	ENSP00000328531.4:p.Thr283=
ENST00000430723.4:c.1521C>A	ENSP00000387657.4:p.Thr507=
ENST00000461280.1:n.1156C>A
ENST00000473610.5:n.1174C>A
ENST00000532957.5:n.2092C>A
NM_000238.3:c.1869C>A , LRG_288t1:c.1869C>A	NP_000229.1:p.Thr623=
NM_001204798.1:c.849C>A	NP_001191727.1:p.Thr283=
NM_172056.2:c.1869C>A , LRG_288t2:c.1869C>A	NP_742053.1:p.Thr623=
NM_172057.2:c.849C>A , LRG_288t3:c.849C>A	NP_742054.1:p.Thr283=
XM_011516185.1:c.1569C>A	XP_011514487.1:p.Thr523=
XM_011516186.1:c.1869C>A	XP_011514488.1:p.Thr623=
XM_011516185.2:c.1569C>A	XP_011514487.1:p.Thr523=
XM_011516186.3:c.1869C>A	XP_011514488.1:p.Thr623=
XM_017012195.1:c.1719C>A	XP_016867684.1:p.Thr573=
XM_017012196.1:c.1692C>A	XP_016867685.1:p.Thr564=
NM_000238.4:c.1869C>A MANE Select	NP_000229.1:p.Thr623=
NM_001204798.2:c.849C>A	NP_001191727.1:p.Thr283=
NM_172057.3:c.849C>A	NP_742054.1:p.Thr283=