Canonical Allele Identifier: CA369862963

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958322-A-T
• MyVariant Identifiers: chr7:g.150655410A>T (hg19) ; chr7:g.150958322A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958322A>T , CM000669.2:g.150958322A>T	GRCh38
NC_000007.13:g.150655410A>T , CM000669.1:g.150655410A>T	GRCh37
NC_000007.12:g.150286343A>T	NCBI36
NG_008916.1:g.24605T>A , LRG_288:g.24605T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1486T>A
ENST00000262186.10:c.653T>A MANE Select	ENSP00000262186.5:p.Met218Lys
ENST00000262186.9:c.653T>A	ENSP00000262186.5:p.Met218Lys
ENST00000430723.4:c.305T>A	ENSP00000387657.4:p.Met102Lys
ENST00000532957.5:n.876T>A
NM_000238.3:c.653T>A , LRG_288t1:c.653T>A	NP_000229.1:p.Met218Lys
NM_172056.2:c.653T>A , LRG_288t2:c.653T>A	NP_742053.1:p.Met218Lys
XM_011516185.1:c.353T>A	XP_011514487.1:p.Met118Lys
XM_011516186.1:c.653T>A	XP_011514488.1:p.Met218Lys
XM_011516185.2:c.353T>A	XP_011514487.1:p.Met118Lys
XM_011516186.3:c.653T>A	XP_011514488.1:p.Met218Lys
XM_017012195.1:c.503T>A	XP_016867684.1:p.Met168Lys
XM_017012196.1:c.476T>A	XP_016867685.1:p.Met159Lys
NM_000238.4:c.653T>A MANE Select	NP_000229.1:p.Met218Lys