Canonical Allele Identifier: CA369855370

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646122A>T (hg19) ; chr7:g.150949034A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949034A>T , CM000669.2:g.150949034A>T	GRCh38
NC_000007.13:g.150646122A>T , CM000669.1:g.150646122A>T	GRCh37
NC_000007.12:g.150277055A>T	NCBI36
NG_008916.1:g.33893T>A , LRG_288:g.33893T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3247T>A
ENST00000262186.10:c.2414T>A MANE Select	ENSP00000262186.5:p.Phe805Tyr
ENST00000330883.9:c.1394T>A	ENSP00000328531.4:p.Phe465Tyr
ENST00000262186.9:c.2414T>A	ENSP00000262186.5:p.Phe805Tyr
ENST00000330883.8:c.1394T>A	ENSP00000328531.4:p.Phe465Tyr
NM_000238.3:c.2414T>A , LRG_288t1:c.2414T>A	NP_000229.1:p.Phe805Tyr
NM_172057.2:c.1394T>A , LRG_288t3:c.1394T>A	NP_742054.1:p.Phe465Tyr
XM_011516185.1:c.2114T>A	XP_011514487.1:p.Phe705Tyr
XM_011516186.1:c.2414T>A	XP_011514488.1:p.Phe805Tyr
XM_011516185.2:c.2114T>A	XP_011514487.1:p.Phe705Tyr
XM_011516186.3:c.2414T>A	XP_011514488.1:p.Phe805Tyr
XM_017012195.1:c.2264T>A	XP_016867684.1:p.Phe755Tyr
XM_017012196.1:c.2237T>A	XP_016867685.1:p.Phe746Tyr
NM_000238.4:c.2414T>A MANE Select	NP_000229.1:p.Phe805Tyr
NM_172057.3:c.1394T>A	NP_742054.1:p.Phe465Tyr