Canonical Allele Identifier: CA369857974

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2084567
• ClinVar RCV Id: RCV002994773
• MyVariant Identifiers: chr7:g.150648641C>T (hg19) ; chr7:g.150951553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951553C>T , CM000669.2:g.150951553C>T	GRCh38
NC_000007.13:g.150648641C>T , CM000669.1:g.150648641C>T	GRCh37
NC_000007.12:g.150279574C>T	NCBI36
NG_008916.1:g.31374G>A , LRG_288:g.31374G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1138G>A
ENST00000684241.1:n.2673G>A
ENST00000262186.10:c.1840G>A MANE Select	ENSP00000262186.5:p.Ala614Thr
ENST00000330883.9:c.820G>A	ENSP00000328531.4:p.Ala274Thr
ENST00000262186.9:c.1840G>A	ENSP00000262186.5:p.Ala614Thr
ENST00000330883.8:c.820G>A	ENSP00000328531.4:p.Ala274Thr
ENST00000430723.4:c.1492G>A	ENSP00000387657.4:p.Ala498Thr
ENST00000461280.1:n.1127G>A
ENST00000473610.5:n.1145G>A
ENST00000532957.5:n.2063G>A
NM_000238.3:c.1840G>A , LRG_288t1:c.1840G>A	NP_000229.1:p.Ala614Thr
NM_001204798.1:c.820G>A	NP_001191727.1:p.Ala274Thr
NM_172056.2:c.1840G>A , LRG_288t2:c.1840G>A	NP_742053.1:p.Ala614Thr
NM_172057.2:c.820G>A , LRG_288t3:c.820G>A	NP_742054.1:p.Ala274Thr
XM_011516185.1:c.1540G>A	XP_011514487.1:p.Ala514Thr
XM_011516186.1:c.1840G>A	XP_011514488.1:p.Ala614Thr
XM_011516185.2:c.1540G>A	XP_011514487.1:p.Ala514Thr
XM_011516186.3:c.1840G>A	XP_011514488.1:p.Ala614Thr
XM_017012195.1:c.1690G>A	XP_016867684.1:p.Ala564Thr
XM_017012196.1:c.1663G>A	XP_016867685.1:p.Ala555Thr
NM_000238.4:c.1840G>A MANE Select	NP_000229.1:p.Ala614Thr
NM_001204798.2:c.820G>A	NP_001191727.1:p.Ala274Thr
NM_172057.3:c.820G>A	NP_742054.1:p.Ala274Thr