Canonical Allele Identifier: CA369863335

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1516873
• ClinVar RCV Id: RCV002026917 ; RCV002346307 ; RCV002486733
• dbSNP Id: rs2117006639
• gnomAD v4: 7-150958422-C-T
• MyVariant Identifiers: chr7:g.150655510C>T (hg19) ; chr7:g.150958422C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958422C>T , CM000669.2:g.150958422C>T	GRCh38
NC_000007.13:g.150655510C>T , CM000669.1:g.150655510C>T	GRCh37
NC_000007.12:g.150286443C>T	NCBI36
NG_008916.1:g.24505G>A , LRG_288:g.24505G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1386G>A
ENST00000262186.10:c.553G>A MANE Select	ENSP00000262186.5:p.Ala185Thr
ENST00000262186.9:c.553G>A	ENSP00000262186.5:p.Ala185Thr
ENST00000430723.4:c.235-30G>A	ENSP00000387657.4:n.235-30G>A
ENST00000532957.5:n.776G>A
NM_000238.3:c.553G>A , LRG_288t1:c.553G>A	NP_000229.1:p.Ala185Thr
NM_172056.2:c.553G>A , LRG_288t2:c.553G>A	NP_742053.1:p.Ala185Thr
XM_011516185.1:c.253G>A	XP_011514487.1:p.Ala85Thr
XM_011516186.1:c.553G>A	XP_011514488.1:p.Ala185Thr
XM_011516185.2:c.253G>A	XP_011514487.1:p.Ala85Thr
XM_011516186.3:c.553G>A	XP_011514488.1:p.Ala185Thr
XM_017012195.1:c.403G>A	XP_016867684.1:p.Ala135Thr
XM_017012196.1:c.376G>A	XP_016867685.1:p.Ala126Thr
NM_000238.4:c.553G>A MANE Select	NP_000229.1:p.Ala185Thr