Canonical Allele Identifier: CA369862788

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958275-G-T
• MyVariant Identifiers: chr7:g.150655363G>T (hg19) ; chr7:g.150958275G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958275G>T , CM000669.2:g.150958275G>T	GRCh38
NC_000007.13:g.150655363G>T , CM000669.1:g.150655363G>T	GRCh37
NC_000007.12:g.150286296G>T	NCBI36
NG_008916.1:g.24652C>A , LRG_288:g.24652C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1533C>A
ENST00000262186.10:c.700C>A MANE Select	ENSP00000262186.5:p.Leu234Met
ENST00000262186.9:c.700C>A	ENSP00000262186.5:p.Leu234Met
ENST00000430723.4:c.352C>A	ENSP00000387657.4:p.Leu118Met
ENST00000532957.5:n.923C>A
NM_000238.3:c.700C>A , LRG_288t1:c.700C>A	NP_000229.1:p.Leu234Met
NM_172056.2:c.700C>A , LRG_288t2:c.700C>A	NP_742053.1:p.Leu234Met
XM_011516185.1:c.400C>A	XP_011514487.1:p.Leu134Met
XM_011516186.1:c.700C>A	XP_011514488.1:p.Leu234Met
XM_011516185.2:c.400C>A	XP_011514487.1:p.Leu134Met
XM_011516186.3:c.700C>A	XP_011514488.1:p.Leu234Met
XM_017012195.1:c.550C>A	XP_016867684.1:p.Leu184Met
XM_017012196.1:c.523C>A	XP_016867685.1:p.Leu175Met
NM_000238.4:c.700C>A MANE Select	NP_000229.1:p.Leu234Met