Canonical Allele Identifier: CA369865842

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150671972T>A (hg19) ; chr7:g.150974884T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974884T>A , CM000669.2:g.150974884T>A	GRCh38
NC_000007.13:g.150671972T>A , CM000669.1:g.150671972T>A	GRCh37
NC_000007.12:g.150302905T>A	NCBI36
NG_008916.1:g.8043A>T , LRG_288:g.8043A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.134A>T MANE Select	ENSP00000262186.5:p.Asn45Ile
ENST00000262186.9:c.134A>T	ENSP00000262186.5:p.Asn45Ile
ENST00000430723.4:c.-44A>T	ENSP00000387657.4:n.-44A>T
ENST00000532957.5:n.357A>T
NM_000238.3:c.134A>T , LRG_288t1:c.134A>T	NP_000229.1:p.Asn45Ile
NM_172056.2:c.134A>T , LRG_288t2:c.134A>T	NP_742053.1:p.Asn45Ile
XM_011516186.1:c.134A>T	XP_011514488.1:p.Asn45Ile
XM_011516186.3:c.134A>T	XP_011514488.1:p.Asn45Ile
XM_017012196.1:c.-44A>T	XP_016867685.1:n.-44A>T
NM_000238.4:c.134A>T MANE Select	NP_000229.1:p.Asn45Ile