Canonical Allele Identifier: CA1752417673

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1039894
• ClinVar RCV Id: RCV001343452
• dbSNP Id: rs1801436332
• gnomAD v4: 7-150958054-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958054C>T , CM000669.2:g.150958054C>T	GRCh38
NC_000007.13:g.150655142C>T , CM000669.1:g.150655142C>T	GRCh37
NC_000007.12:g.150286075C>T	NCBI36
NG_008916.1:g.24873G>A , LRG_288:g.24873G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1749+5G>A
ENST00000262186.10:c.916+5G>A MANE Select	ENSP00000262186.5:n.916+5G>A
ENST00000262186.9:c.916+5G>A	ENSP00000262186.5:n.916+5G>A
ENST00000430723.4:c.568+5G>A	ENSP00000387657.4:n.568+5G>A
ENST00000532957.5:n.1139+5G>A
NM_000238.3:c.916+5G>A , LRG_288t1:c.916+5G>A	NP_000229.1:n.916+5G>A
NM_172056.2:c.916+5G>A , LRG_288t2:c.916+5G>A	NP_742053.1:n.916+5G>A
XM_011516185.1:c.616+5G>A	XP_011514487.1:n.616+5G>A
XM_011516186.1:c.916+5G>A	XP_011514488.1:n.916+5G>A
XM_011516185.2:c.616+5G>A	XP_011514487.1:n.616+5G>A
XM_011516186.3:c.916+5G>A	XP_011514488.1:n.916+5G>A
XM_017012195.1:c.766+5G>A	XP_016867684.1:n.766+5G>A
XM_017012196.1:c.739+5G>A	XP_016867685.1:n.739+5G>A
NM_000238.4:c.916+5G>A MANE Select	NP_000229.1:n.916+5G>A