Canonical Allele Identifier: CA369861926

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 925941
• ClinVar RCV Id: RCV001841029
• dbSNP Id: rs1801415549
• MyVariant Identifiers: chr7:g.150654579G>T (hg19) ; chr7:g.150957491G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957491G>T , CM000669.2:g.150957491G>T	GRCh38
NC_000007.13:g.150654579G>T , CM000669.1:g.150654579G>T	GRCh37
NC_000007.12:g.150285512G>T	NCBI36
NG_008916.1:g.25436C>A , LRG_288:g.25436C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1761C>A
ENST00000262186.10:c.928C>A MANE Select	ENSP00000262186.5:p.Pro310Thr
ENST00000262186.9:c.928C>A	ENSP00000262186.5:p.Pro310Thr
ENST00000430723.4:c.580C>A	ENSP00000387657.4:p.Pro194Thr
ENST00000532957.5:n.1151C>A
NM_000238.3:c.928C>A , LRG_288t1:c.928C>A	NP_000229.1:p.Pro310Thr
NM_172056.2:c.928C>A , LRG_288t2:c.928C>A	NP_742053.1:p.Pro310Thr
XM_011516185.1:c.628C>A	XP_011514487.1:p.Pro210Thr
XM_011516186.1:c.928C>A	XP_011514488.1:p.Pro310Thr
XM_011516185.2:c.628C>A	XP_011514487.1:p.Pro210Thr
XM_011516186.3:c.928C>A	XP_011514488.1:p.Pro310Thr
XM_017012195.1:c.778C>A	XP_016867684.1:p.Pro260Thr
XM_017012196.1:c.751C>A	XP_016867685.1:p.Pro251Thr
NM_000238.4:c.928C>A MANE Select	NP_000229.1:p.Pro310Thr