Canonical Allele Identifier: CA2685600469

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150946823-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946823G>A , CM000669.2:g.150946823G>A	GRCh38
NC_000007.13:g.150643911G>A , CM000669.1:g.150643911G>A	GRCh37
NC_000007.12:g.150274844G>A	NCBI36
NG_008916.1:g.36104C>T , LRG_288:g.36104C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4163+54C>T
ENST00000262186.10:c.3330+54C>T MANE Select	ENSP00000262186.5:n.3330+54C>T
ENST00000330883.9:c.2310+54C>T	ENSP00000328531.4:n.2310+54C>T
ENST00000262186.9:c.3330+54C>T	ENSP00000262186.5:n.3330+54C>T
ENST00000330883.8:c.2310+54C>T	ENSP00000328531.4:n.2310+54C>T
NM_000238.3:c.3330+54C>T , LRG_288t1:c.3330+54C>T	NP_000229.1:n.3330+54C>T
NM_172057.2:c.2310+54C>T , LRG_288t3:c.2310+54C>T	NP_742054.1:n.2310+54C>T
XM_011516185.1:c.3030+54C>T	XP_011514487.1:n.3030+54C>T
XM_011516185.2:c.3030+54C>T	XP_011514487.1:n.3030+54C>T
XM_017012195.1:c.3180+54C>T	XP_016867684.1:n.3180+54C>T
XM_017012196.1:c.3153+54C>T	XP_016867685.1:n.3153+54C>T
NM_000238.4:c.3330+54C>T MANE Select	NP_000229.1:n.3330+54C>T
NM_172057.3:c.2310+54C>T	NP_742054.1:n.2310+54C>T