Canonical Allele Identifier: CA2685609934

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150959468-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959468C>A , CM000669.2:g.150959468C>A	GRCh38
NC_000007.13:g.150656556C>A , CM000669.1:g.150656556C>A	GRCh37
NC_000007.12:g.150287489C>A	NCBI36
NG_008916.1:g.23459G>T , LRG_288:g.23459G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1305+104G>T
ENST00000262186.10:c.472+104G>T MANE Select	ENSP00000262186.5:n.472+104G>T
ENST00000262186.9:c.472+104G>T	ENSP00000262186.5:n.472+104G>T
ENST00000430723.4:c.234+165G>T	ENSP00000387657.4:n.234+165G>T
ENST00000532957.5:n.695+104G>T
NM_000238.3:c.472+104G>T , LRG_288t1:c.472+104G>T	NP_000229.1:n.472+104G>T
NM_172056.2:c.472+104G>T , LRG_288t2:c.472+104G>T	NP_742053.1:n.472+104G>T
XM_011516185.1:c.172+104G>T	XP_011514487.1:n.172+104G>T
XM_011516186.1:c.472+104G>T	XP_011514488.1:n.472+104G>T
XM_011516185.2:c.172+104G>T	XP_011514487.1:n.172+104G>T
XM_011516186.3:c.472+104G>T	XP_011514488.1:n.472+104G>T
XM_017012195.1:c.322+104G>T	XP_016867684.1:n.322+104G>T
XM_017012196.1:c.295+104G>T	XP_016867685.1:n.295+104G>T
NM_000238.4:c.472+104G>T MANE Select	NP_000229.1:n.472+104G>T