Canonical Allele Identifier: CA369862877

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958301-A-T
• MyVariant Identifiers: chr7:g.150655389A>T (hg19) ; chr7:g.150958301A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958301A>T , CM000669.2:g.150958301A>T	GRCh38
NC_000007.13:g.150655389A>T , CM000669.1:g.150655389A>T	GRCh37
NC_000007.12:g.150286322A>T	NCBI36
NG_008916.1:g.24626T>A , LRG_288:g.24626T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1507T>A
ENST00000262186.10:c.674T>A MANE Select	ENSP00000262186.5:p.Leu225His
ENST00000262186.9:c.674T>A	ENSP00000262186.5:p.Leu225His
ENST00000430723.4:c.326T>A	ENSP00000387657.4:p.Leu109His
ENST00000532957.5:n.897T>A
NM_000238.3:c.674T>A , LRG_288t1:c.674T>A	NP_000229.1:p.Leu225His
NM_172056.2:c.674T>A , LRG_288t2:c.674T>A	NP_742053.1:p.Leu225His
XM_011516185.1:c.374T>A	XP_011514487.1:p.Leu125His
XM_011516186.1:c.674T>A	XP_011514488.1:p.Leu225His
XM_011516185.2:c.374T>A	XP_011514487.1:p.Leu125His
XM_011516186.3:c.674T>A	XP_011514488.1:p.Leu225His
XM_017012195.1:c.524T>A	XP_016867684.1:p.Leu175His
XM_017012196.1:c.497T>A	XP_016867685.1:p.Leu166His
NM_000238.4:c.674T>A MANE Select	NP_000229.1:p.Leu225His