Canonical Allele Identifier: CA369859921

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 919895
• ClinVar RCV Id: RCV001842727
• dbSNP Id: rs1801221411
• gnomAD v4: 7-150952625-C-T
• MyVariant Identifiers: chr7:g.150649713C>T (hg19) ; chr7:g.150952625C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952625C>T , CM000669.2:g.150952625C>T	GRCh38
NC_000007.13:g.150649713C>T , CM000669.1:g.150649713C>T	GRCh37
NC_000007.12:g.150280646C>T	NCBI36
NG_008916.1:g.30302G>A , LRG_288:g.30302G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.655G>A
ENST00000684116.1:n.250G>A
ENST00000684241.1:n.2190G>A
ENST00000262186.10:c.1357G>A MANE Select	ENSP00000262186.5:p.Ala453Thr
ENST00000330883.9:c.337G>A	ENSP00000328531.4:p.Ala113Thr
ENST00000262186.9:c.1357G>A	ENSP00000262186.5:p.Ala453Thr
ENST00000330883.8:c.337G>A	ENSP00000328531.4:p.Ala113Thr
ENST00000430723.4:c.1009G>A	ENSP00000387657.4:p.Ala337Thr
ENST00000461280.1:n.644G>A
ENST00000473610.5:n.662G>A
ENST00000532957.5:n.1580G>A
NM_000238.3:c.1357G>A , LRG_288t1:c.1357G>A	NP_000229.1:p.Ala453Thr
NM_001204798.1:c.337G>A	NP_001191727.1:p.Ala113Thr
NM_172056.2:c.1357G>A , LRG_288t2:c.1357G>A	NP_742053.1:p.Ala453Thr
NM_172057.2:c.337G>A , LRG_288t3:c.337G>A	NP_742054.1:p.Ala113Thr
XM_011516185.1:c.1057G>A	XP_011514487.1:p.Ala353Thr
XM_011516186.1:c.1357G>A	XP_011514488.1:p.Ala453Thr
XM_011516185.2:c.1057G>A	XP_011514487.1:p.Ala353Thr
XM_011516186.3:c.1357G>A	XP_011514488.1:p.Ala453Thr
XM_017012195.1:c.1207G>A	XP_016867684.1:p.Ala403Thr
XM_017012196.1:c.1180G>A	XP_016867685.1:p.Ala394Thr
NM_000238.4:c.1357G>A MANE Select	NP_000229.1:p.Ala453Thr
NM_001204798.2:c.337G>A	NP_001191727.1:p.Ala113Thr
NM_172057.3:c.337G>A	NP_742054.1:p.Ala113Thr