Canonical Allele Identifier: CA369866691
Gene: KCNH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977867T>A , CM000669.2:g.150977867T>A GRCh38
NC_000007.13:g.150674955T>A , CM000669.1:g.150674955T>A GRCh37
NC_000007.12:g.150305888T>A NCBI36
NG_008916.1:g.5060A>T , LRG_288:g.5060A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.47A>T MANE Select ENSP00000262186.5:p.Asp16Val
ENST00000262186.9:c.47A>T ENSP00000262186.5:p.Asp16Val
ENST00000430723.4:c.-131A>T ENSP00000387657.4:n.-131A>T
ENST00000532957.5:n.270A>T
NM_000238.3:c.47A>T , LRG_288t1:c.47A>T NP_000229.1:p.Asp16Val
NM_172056.2:c.47A>T , LRG_288t2:c.47A>T NP_742053.1:p.Asp16Val
XM_011516186.1:c.47A>T XP_011514488.1:p.Asp16Val
XM_011516186.3:c.47A>T XP_011514488.1:p.Asp16Val
NM_000238.4:c.47A>T MANE Select NP_000229.1:p.Asp16Val