Canonical Allele Identifier: CA169080855

Gene: KCNH2

Linked Data

• dbSNP Id: rs41311018
• MyVariant Identifiers: chr7:g.150654497G>T (hg19) ; chr7:g.150957409G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957409G>T , CM000669.2:g.150957409G>T	GRCh38
NC_000007.13:g.150654497G>T , CM000669.1:g.150654497G>T	GRCh37
NC_000007.12:g.150285430G>T	NCBI36
NG_008916.1:g.25518C>A , LRG_288:g.25518C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1843C>A
ENST00000262186.10:c.1010C>A MANE Select	ENSP00000262186.5:p.Thr337Asn
ENST00000262186.9:c.1010C>A	ENSP00000262186.5:p.Thr337Asn
ENST00000430723.4:c.662C>A	ENSP00000387657.4:p.Thr221Asn
ENST00000532957.5:n.1233C>A
NM_000238.3:c.1010C>A , LRG_288t1:c.1010C>A	NP_000229.1:p.Thr337Asn
NM_172056.2:c.1010C>A , LRG_288t2:c.1010C>A	NP_742053.1:p.Thr337Asn
XM_011516185.1:c.710C>A	XP_011514487.1:p.Thr237Asn
XM_011516186.1:c.1010C>A	XP_011514488.1:p.Thr337Asn
XM_011516185.2:c.710C>A	XP_011514487.1:p.Thr237Asn
XM_011516186.3:c.1010C>A	XP_011514488.1:p.Thr337Asn
XM_017012195.1:c.860C>A	XP_016867684.1:p.Thr287Asn
XM_017012196.1:c.833C>A	XP_016867685.1:p.Thr278Asn
NM_000238.4:c.1010C>A MANE Select	NP_000229.1:p.Thr337Asn