Canonical Allele Identifier: CA369862436

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958175-A-T
• MyVariant Identifiers: chr7:g.150655263A>T (hg19) ; chr7:g.150958175A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958175A>T , CM000669.2:g.150958175A>T	GRCh38
NC_000007.13:g.150655263A>T , CM000669.1:g.150655263A>T	GRCh37
NC_000007.12:g.150286196A>T	NCBI36
NG_008916.1:g.24752T>A , LRG_288:g.24752T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1633T>A
ENST00000262186.10:c.800T>A MANE Select	ENSP00000262186.5:p.Leu267Gln
ENST00000262186.9:c.800T>A	ENSP00000262186.5:p.Leu267Gln
ENST00000430723.4:c.452T>A	ENSP00000387657.4:p.Leu151Gln
ENST00000532957.5:n.1023T>A
NM_000238.3:c.800T>A , LRG_288t1:c.800T>A	NP_000229.1:p.Leu267Gln
NM_172056.2:c.800T>A , LRG_288t2:c.800T>A	NP_742053.1:p.Leu267Gln
XM_011516185.1:c.500T>A	XP_011514487.1:p.Leu167Gln
XM_011516186.1:c.800T>A	XP_011514488.1:p.Leu267Gln
XM_011516185.2:c.500T>A	XP_011514487.1:p.Leu167Gln
XM_011516186.3:c.800T>A	XP_011514488.1:p.Leu267Gln
XM_017012195.1:c.650T>A	XP_016867684.1:p.Leu217Gln
XM_017012196.1:c.623T>A	XP_016867685.1:p.Leu208Gln
NM_000238.4:c.800T>A MANE Select	NP_000229.1:p.Leu267Gln