Canonical Allele Identifier: CA369861646

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150957403-T-A
• MyVariant Identifiers: chr7:g.150654491T>A (hg19) ; chr7:g.150957403T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957403T>A , CM000669.2:g.150957403T>A	GRCh38
NC_000007.13:g.150654491T>A , CM000669.1:g.150654491T>A	GRCh37
NC_000007.12:g.150285424T>A	NCBI36
NG_008916.1:g.25524A>T , LRG_288:g.25524A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1849A>T
ENST00000262186.10:c.1016A>T MANE Select	ENSP00000262186.5:p.Asn339Ile
ENST00000262186.9:c.1016A>T	ENSP00000262186.5:p.Asn339Ile
ENST00000430723.4:c.668A>T	ENSP00000387657.4:p.Asn223Ile
ENST00000532957.5:n.1239A>T
NM_000238.3:c.1016A>T , LRG_288t1:c.1016A>T	NP_000229.1:p.Asn339Ile
NM_172056.2:c.1016A>T , LRG_288t2:c.1016A>T	NP_742053.1:p.Asn339Ile
XM_011516185.1:c.716A>T	XP_011514487.1:p.Asn239Ile
XM_011516186.1:c.1016A>T	XP_011514488.1:p.Asn339Ile
XM_011516185.2:c.716A>T	XP_011514487.1:p.Asn239Ile
XM_011516186.3:c.1016A>T	XP_011514488.1:p.Asn339Ile
XM_017012195.1:c.866A>T	XP_016867684.1:p.Asn289Ile
XM_017012196.1:c.839A>T	XP_016867685.1:p.Asn280Ile
NM_000238.4:c.1016A>T MANE Select	NP_000229.1:p.Asn339Ile