Canonical Allele Identifier: CA369852034

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644014A>T (hg19) ; chr7:g.150946926A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946926A>T , CM000669.2:g.150946926A>T	GRCh38
NC_000007.13:g.150644014A>T , CM000669.1:g.150644014A>T	GRCh37
NC_000007.12:g.150274947A>T	NCBI36
NG_008916.1:g.36001T>A , LRG_288:g.36001T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4114T>A
ENST00000262186.10:c.3281T>A MANE Select	ENSP00000262186.5:p.Leu1094Gln
ENST00000330883.9:c.2261T>A	ENSP00000328531.4:p.Leu754Gln
ENST00000262186.9:c.3281T>A	ENSP00000262186.5:p.Leu1094Gln
ENST00000330883.8:c.2261T>A	ENSP00000328531.4:p.Leu754Gln
NM_000238.3:c.3281T>A , LRG_288t1:c.3281T>A	NP_000229.1:p.Leu1094Gln
NM_172057.2:c.2261T>A , LRG_288t3:c.2261T>A	NP_742054.1:p.Leu754Gln
XM_011516185.1:c.2981T>A	XP_011514487.1:p.Leu994Gln
XM_011516185.2:c.2981T>A	XP_011514487.1:p.Leu994Gln
XM_017012195.1:c.3131T>A	XP_016867684.1:p.Leu1044Gln
XM_017012196.1:c.3104T>A	XP_016867685.1:p.Leu1035Gln
NM_000238.4:c.3281T>A MANE Select	NP_000229.1:p.Leu1094Gln
NM_172057.3:c.2261T>A	NP_742054.1:p.Leu754Gln