Canonical Allele Identifier: CA2685600245

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150945592-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945592C>A , CM000669.2:g.150945592C>A	GRCh38
NC_000007.13:g.150642680C>A , CM000669.1:g.150642680C>A	GRCh37
NC_000007.12:g.150273613C>A	NCBI36
NG_008916.1:g.37335G>T , LRG_288:g.37335G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4164-78G>T
ENST00000262186.10:c.3331-78G>T MANE Select	ENSP00000262186.5:n.3331-78G>T
ENST00000330883.9:c.2311-78G>T	ENSP00000328531.4:n.2311-78G>T
ENST00000262186.9:c.3331-78G>T	ENSP00000262186.5:n.3331-78G>T
ENST00000330883.8:c.2311-78G>T	ENSP00000328531.4:n.2311-78G>T
NM_000238.3:c.3331-78G>T , LRG_288t1:c.3331-78G>T	NP_000229.1:n.3331-78G>T
NM_172057.2:c.2311-78G>T , LRG_288t3:c.2311-78G>T	NP_742054.1:n.2311-78G>T
XM_011516185.1:c.3031-78G>T	XP_011514487.1:n.3031-78G>T
XM_011516185.2:c.3031-78G>T	XP_011514487.1:n.3031-78G>T
XM_017012195.1:c.3181-78G>T	XP_016867684.1:n.3181-78G>T
XM_017012196.1:c.3154-78G>T	XP_016867685.1:n.3154-78G>T
NM_000238.4:c.3331-78G>T MANE Select	NP_000229.1:n.3331-78G>T
NM_172057.3:c.2311-78G>T	NP_742054.1:n.2311-78G>T