Canonical Allele Identifier: CA369862657

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958230-G-T
• MyVariant Identifiers: chr7:g.150655318G>T (hg19) ; chr7:g.150958230G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958230G>T , CM000669.2:g.150958230G>T	GRCh38
NC_000007.13:g.150655318G>T , CM000669.1:g.150655318G>T	GRCh37
NC_000007.12:g.150286251G>T	NCBI36
NG_008916.1:g.24697C>A , LRG_288:g.24697C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1578C>A
ENST00000262186.10:c.745C>A MANE Select	ENSP00000262186.5:p.Pro249Thr
ENST00000262186.9:c.745C>A	ENSP00000262186.5:p.Pro249Thr
ENST00000430723.4:c.397C>A	ENSP00000387657.4:p.Pro133Thr
ENST00000532957.5:n.968C>A
NM_000238.3:c.745C>A , LRG_288t1:c.745C>A	NP_000229.1:p.Pro249Thr
NM_172056.2:c.745C>A , LRG_288t2:c.745C>A	NP_742053.1:p.Pro249Thr
XM_011516185.1:c.445C>A	XP_011514487.1:p.Pro149Thr
XM_011516186.1:c.745C>A	XP_011514488.1:p.Pro249Thr
XM_011516185.2:c.445C>A	XP_011514487.1:p.Pro149Thr
XM_011516186.3:c.745C>A	XP_011514488.1:p.Pro249Thr
XM_017012195.1:c.595C>A	XP_016867684.1:p.Pro199Thr
XM_017012196.1:c.568C>A	XP_016867685.1:p.Pro190Thr
NM_000238.4:c.745C>A MANE Select	NP_000229.1:p.Pro249Thr