Canonical Allele Identifier: CA005807

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 14427
• ClinVar RCV Id: RCV000015508 ; RCV000058029 ; RCV000223848 ; RCV000822422 ; RCV002408467 ; RCV004549371
• dbSNP Id: rs121912507
• gnomAD v4: 7-150951511-C-T
• MyVariant Identifiers: chr7:g.150648599C>T (hg19) ; chr7:g.150951511C>T (hg38)
• PubMed: PMID:7889573 ; PMID:9694858 ; PMID:10973849 ; PMID:11854117 ; PMID:14998624 ; PMID:15840476 ; PMID:16379539 ; PMID:16432067 ; PMID:16922724 ; PMID:18441445 ; PMID:18464931 ; PMID:19716085 ; PMID:19841300 ; PMID:20833965 ; PMID:21806934 ; PMID:22581653 ; PMID:22876326

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951511C>T , CM000669.2:g.150951511C>T	GRCh38
NC_000007.13:g.150648599C>T , CM000669.1:g.150648599C>T	GRCh37
NC_000007.12:g.150279532C>T	NCBI36
NG_008916.1:g.31416G>A , LRG_288:g.31416G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1180G>A
ENST00000683359.1:n.6G>A
ENST00000684241.1:n.2715G>A
ENST00000262186.10:c.1882G>A MANE Select	ENSP00000262186.5:p.Gly628Ser
ENST00000330883.9:c.862G>A	ENSP00000328531.4:p.Gly288Ser
ENST00000262186.9:c.1882G>A	ENSP00000262186.5:p.Gly628Ser
ENST00000330883.8:c.862G>A	ENSP00000328531.4:p.Gly288Ser
ENST00000430723.4:c.1534G>A	ENSP00000387657.4:p.Gly512Ser
ENST00000461280.1:n.1169G>A
ENST00000473610.5:n.1187G>A
ENST00000532957.5:n.2105G>A
NM_000238.3:c.1882G>A , LRG_288t1:c.1882G>A	NP_000229.1:p.Gly628Ser
NM_001204798.1:c.862G>A	NP_001191727.1:p.Gly288Ser
NM_172056.2:c.1882G>A , LRG_288t2:c.1882G>A	NP_742053.1:p.Gly628Ser
NM_172057.2:c.862G>A , LRG_288t3:c.862G>A	NP_742054.1:p.Gly288Ser
XM_011516185.1:c.1582G>A	XP_011514487.1:p.Gly528Ser
XM_011516186.1:c.1882G>A	XP_011514488.1:p.Gly628Ser
XM_011516185.2:c.1582G>A	XP_011514487.1:p.Gly528Ser
XM_011516186.3:c.1882G>A	XP_011514488.1:p.Gly628Ser
XM_017012195.1:c.1732G>A	XP_016867684.1:p.Gly578Ser
XM_017012196.1:c.1705G>A	XP_016867685.1:p.Gly569Ser
NM_000238.4:c.1882G>A MANE Select	NP_000229.1:p.Gly628Ser
NM_001204798.2:c.862G>A	NP_001191727.1:p.Gly288Ser
NM_172057.3:c.862G>A	NP_742054.1:p.Gly288Ser