Canonical Allele Identifier: CA1752453062

Gene: KCNH2

Linked Data

• dbSNP Id: rs3807375
• gnomAD v3: 7-150970122-C-G
• gnomAD v4: 7-150970122-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150970122C>G , CM000669.2:g.150970122C>G	GRCh38
NC_000007.13:g.150667210C>G , CM000669.1:g.150667210C>G	GRCh37
NC_000007.12:g.150298143C>G	NCBI36
NG_008916.1:g.12805G>C , LRG_288:g.12805G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.307+4589G>C MANE Select	ENSP00000262186.5:n.307+4589G>C
ENST00000262186.9:c.307+4589G>C	ENSP00000262186.5:n.307+4589G>C
ENST00000430723.4:c.130+4589G>C	ENSP00000387657.4:n.130+4589G>C
ENST00000532957.5:n.530+4589G>C
NM_000238.3:c.307+4589G>C , LRG_288t1:c.307+4589G>C	NP_000229.1:n.307+4589G>C
NM_172056.2:c.307+4589G>C , LRG_288t2:c.307+4589G>C	NP_742053.1:n.307+4589G>C
XM_011516185.1:c.7+4248G>C	XP_011514487.1:n.7+4248G>C
XM_011516186.1:c.307+4589G>C	XP_011514488.1:n.307+4589G>C
XM_011516185.2:c.7+4248G>C	XP_011514487.1:n.7+4248G>C
XM_011516186.3:c.307+4589G>C	XP_011514488.1:n.307+4589G>C
XM_017012196.1:c.130+4589G>C	XP_016867685.1:n.130+4589G>C
NM_000238.4:c.307+4589G>C MANE Select	NP_000229.1:n.307+4589G>C