Canonical Allele Identifier: CA369861712

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654521G>T (hg19) ; chr7:g.150957433G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957433G>T , CM000669.2:g.150957433G>T	GRCh38
NC_000007.13:g.150654521G>T , CM000669.1:g.150654521G>T	GRCh37
NC_000007.12:g.150285454G>T	NCBI36
NG_008916.1:g.25494C>A , LRG_288:g.25494C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1819C>A
ENST00000262186.10:c.986C>A MANE Select	ENSP00000262186.5:p.Thr329Asn
ENST00000262186.9:c.986C>A	ENSP00000262186.5:p.Thr329Asn
ENST00000430723.4:c.638C>A	ENSP00000387657.4:p.Thr213Asn
ENST00000532957.5:n.1209C>A
NM_000238.3:c.986C>A , LRG_288t1:c.986C>A	NP_000229.1:p.Thr329Asn
NM_172056.2:c.986C>A , LRG_288t2:c.986C>A	NP_742053.1:p.Thr329Asn
XM_011516185.1:c.686C>A	XP_011514487.1:p.Thr229Asn
XM_011516186.1:c.986C>A	XP_011514488.1:p.Thr329Asn
XM_011516185.2:c.686C>A	XP_011514487.1:p.Thr229Asn
XM_011516186.3:c.986C>A	XP_011514488.1:p.Thr329Asn
XM_017012195.1:c.836C>A	XP_016867684.1:p.Thr279Asn
XM_017012196.1:c.809C>A	XP_016867685.1:p.Thr270Asn
NM_000238.4:c.986C>A MANE Select	NP_000229.1:p.Thr329Asn