Canonical Allele Identifier: CA2685610005

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150959512-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959512A>C , CM000669.2:g.150959512A>C	GRCh38
NC_000007.13:g.150656600A>C , CM000669.1:g.150656600A>C	GRCh37
NC_000007.12:g.150287533A>C	NCBI36
NG_008916.1:g.23415T>G , LRG_288:g.23415T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1305+60T>G
ENST00000262186.10:c.472+60T>G MANE Select	ENSP00000262186.5:n.472+60T>G
ENST00000262186.9:c.472+60T>G	ENSP00000262186.5:n.472+60T>G
ENST00000430723.4:c.234+121T>G	ENSP00000387657.4:n.234+121T>G
ENST00000532957.5:n.695+60T>G
NM_000238.3:c.472+60T>G , LRG_288t1:c.472+60T>G	NP_000229.1:n.472+60T>G
NM_172056.2:c.472+60T>G , LRG_288t2:c.472+60T>G	NP_742053.1:n.472+60T>G
XM_011516185.1:c.172+60T>G	XP_011514487.1:n.172+60T>G
XM_011516186.1:c.472+60T>G	XP_011514488.1:n.472+60T>G
XM_011516185.2:c.172+60T>G	XP_011514487.1:n.172+60T>G
XM_011516186.3:c.472+60T>G	XP_011514488.1:n.472+60T>G
XM_017012195.1:c.322+60T>G	XP_016867684.1:n.322+60T>G
XM_017012196.1:c.295+60T>G	XP_016867685.1:n.295+60T>G
NM_000238.4:c.472+60T>G MANE Select	NP_000229.1:n.472+60T>G