Canonical Allele Identifier: CA369851610

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150642592A>T (hg19) ; chr7:g.150945504A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945504A>T , CM000669.2:g.150945504A>T	GRCh38
NC_000007.13:g.150642592A>T , CM000669.1:g.150642592A>T	GRCh37
NC_000007.12:g.150273525A>T	NCBI36
NG_008916.1:g.37423T>A , LRG_288:g.37423T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4174T>A
ENST00000262186.10:c.3341T>A MANE Select	ENSP00000262186.5:p.Phe1114Tyr
ENST00000330883.9:c.2321T>A	ENSP00000328531.4:p.Phe774Tyr
ENST00000262186.9:c.3341T>A	ENSP00000262186.5:p.Phe1114Tyr
ENST00000330883.8:c.2321T>A	ENSP00000328531.4:p.Phe774Tyr
NM_000238.3:c.3341T>A , LRG_288t1:c.3341T>A	NP_000229.1:p.Phe1114Tyr
NM_172057.2:c.2321T>A , LRG_288t3:c.2321T>A	NP_742054.1:p.Phe774Tyr
XM_011516185.1:c.3041T>A	XP_011514487.1:p.Phe1014Tyr
XM_011516185.2:c.3041T>A	XP_011514487.1:p.Phe1014Tyr
XM_017012195.1:c.3191T>A	XP_016867684.1:p.Phe1064Tyr
XM_017012196.1:c.3164T>A	XP_016867685.1:p.Phe1055Tyr
NM_000238.4:c.3341T>A MANE Select	NP_000229.1:p.Phe1114Tyr
NM_172057.3:c.2321T>A	NP_742054.1:p.Phe774Tyr