Canonical Allele Identifier: CA2685600722

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948798-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948798G>C , CM000669.2:g.150948798G>C	GRCh38
NC_000007.13:g.150645886G>C , CM000669.1:g.150645886G>C	GRCh37
NC_000007.12:g.150276819G>C	NCBI36
NG_008916.1:g.34129C>G , LRG_288:g.34129C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3425+58C>G
ENST00000262186.10:c.2592+58C>G MANE Select	ENSP00000262186.5:n.2592+58C>G
ENST00000330883.9:c.1572+58C>G	ENSP00000328531.4:n.1572+58C>G
ENST00000262186.9:c.2592+58C>G	ENSP00000262186.5:n.2592+58C>G
ENST00000330883.8:c.1572+58C>G	ENSP00000328531.4:n.1572+58C>G
NM_000238.3:c.2592+58C>G , LRG_288t1:c.2592+58C>G	NP_000229.1:n.2592+58C>G
NM_172057.2:c.1572+58C>G , LRG_288t3:c.1572+58C>G	NP_742054.1:n.1572+58C>G
XM_011516185.1:c.2292+58C>G	XP_011514487.1:n.2292+58C>G
XM_011516186.1:c.2592+58C>G	XP_011514488.1:n.2592+58C>G
XM_011516185.2:c.2292+58C>G	XP_011514487.1:n.2292+58C>G
XM_011516186.3:c.2592+58C>G	XP_011514488.1:n.2592+58C>G
XM_017012195.1:c.2442+58C>G	XP_016867684.1:n.2442+58C>G
XM_017012196.1:c.2415+58C>G	XP_016867685.1:n.2415+58C>G
NM_000238.4:c.2592+58C>G MANE Select	NP_000229.1:n.2592+58C>G
NM_172057.3:c.1572+58C>G	NP_742054.1:n.1572+58C>G