Canonical Allele Identifier: CA369862667

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958233-G-T
• MyVariant Identifiers: chr7:g.150655321G>T (hg19) ; chr7:g.150958233G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958233G>T , CM000669.2:g.150958233G>T	GRCh38
NC_000007.13:g.150655321G>T , CM000669.1:g.150655321G>T	GRCh37
NC_000007.12:g.150286254G>T	NCBI36
NG_008916.1:g.24694C>A , LRG_288:g.24694C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1575C>A
ENST00000262186.10:c.742C>A MANE Select	ENSP00000262186.5:p.Leu248Ile
ENST00000262186.9:c.742C>A	ENSP00000262186.5:p.Leu248Ile
ENST00000430723.4:c.394C>A	ENSP00000387657.4:p.Leu132Ile
ENST00000532957.5:n.965C>A
NM_000238.3:c.742C>A , LRG_288t1:c.742C>A	NP_000229.1:p.Leu248Ile
NM_172056.2:c.742C>A , LRG_288t2:c.742C>A	NP_742053.1:p.Leu248Ile
XM_011516185.1:c.442C>A	XP_011514487.1:p.Leu148Ile
XM_011516186.1:c.742C>A	XP_011514488.1:p.Leu248Ile
XM_011516185.2:c.442C>A	XP_011514487.1:p.Leu148Ile
XM_011516186.3:c.742C>A	XP_011514488.1:p.Leu248Ile
XM_017012195.1:c.592C>A	XP_016867684.1:p.Leu198Ile
XM_017012196.1:c.565C>A	XP_016867685.1:p.Leu189Ile
NM_000238.4:c.742C>A MANE Select	NP_000229.1:p.Leu248Ile