Canonical Allele Identifier: CA369862725

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958257-G-T
• MyVariant Identifiers: chr7:g.150655345G>T (hg19) ; chr7:g.150958257G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958257G>T , CM000669.2:g.150958257G>T	GRCh38
NC_000007.13:g.150655345G>T , CM000669.1:g.150655345G>T	GRCh37
NC_000007.12:g.150286278G>T	NCBI36
NG_008916.1:g.24670C>A , LRG_288:g.24670C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1551C>A
ENST00000262186.10:c.718C>A MANE Select	ENSP00000262186.5:p.Pro240Thr
ENST00000262186.9:c.718C>A	ENSP00000262186.5:p.Pro240Thr
ENST00000430723.4:c.370C>A	ENSP00000387657.4:p.Pro124Thr
ENST00000532957.5:n.941C>A
NM_000238.3:c.718C>A , LRG_288t1:c.718C>A	NP_000229.1:p.Pro240Thr
NM_172056.2:c.718C>A , LRG_288t2:c.718C>A	NP_742053.1:p.Pro240Thr
XM_011516185.1:c.418C>A	XP_011514487.1:p.Pro140Thr
XM_011516186.1:c.718C>A	XP_011514488.1:p.Pro240Thr
XM_011516185.2:c.418C>A	XP_011514487.1:p.Pro140Thr
XM_011516186.3:c.718C>A	XP_011514488.1:p.Pro240Thr
XM_017012195.1:c.568C>A	XP_016867684.1:p.Pro190Thr
XM_017012196.1:c.541C>A	XP_016867685.1:p.Pro181Thr
NM_000238.4:c.718C>A MANE Select	NP_000229.1:p.Pro240Thr