Canonical Allele Identifier: CA369856093

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647318A>T (hg19) ; chr7:g.150950230A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950230A>T , CM000669.2:g.150950230A>T	GRCh38
NC_000007.13:g.150647318A>T , CM000669.1:g.150647318A>T	GRCh37
NC_000007.12:g.150278251A>T	NCBI36
NG_008916.1:g.32697T>A , LRG_288:g.32697T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1634T>A
ENST00000684241.1:n.3169T>A
ENST00000262186.10:c.2336T>A MANE Select	ENSP00000262186.5:p.Leu779Gln
ENST00000330883.9:c.1316T>A	ENSP00000328531.4:p.Leu439Gln
ENST00000262186.9:c.2336T>A	ENSP00000262186.5:p.Leu779Gln
ENST00000330883.8:c.1316T>A	ENSP00000328531.4:p.Leu439Gln
ENST00000430723.4:c.1988T>A	ENSP00000387657.4:p.Leu663Gln
ENST00000461280.1:n.1623T>A
ENST00000473610.5:n.1968T>A
ENST00000532957.5:n.2559T>A
NM_000238.3:c.2336T>A , LRG_288t1:c.2336T>A	NP_000229.1:p.Leu779Gln
NM_001204798.1:c.1316T>A	NP_001191727.1:p.Leu439Gln
NM_172056.2:c.2336T>A , LRG_288t2:c.2336T>A	NP_742053.1:p.Leu779Gln
NM_172057.2:c.1316T>A , LRG_288t3:c.1316T>A	NP_742054.1:p.Leu439Gln
XM_011516185.1:c.2036T>A	XP_011514487.1:p.Leu679Gln
XM_011516186.1:c.2336T>A	XP_011514488.1:p.Leu779Gln
XM_011516185.2:c.2036T>A	XP_011514487.1:p.Leu679Gln
XM_011516186.3:c.2336T>A	XP_011514488.1:p.Leu779Gln
XM_017012195.1:c.2186T>A	XP_016867684.1:p.Leu729Gln
XM_017012196.1:c.2159T>A	XP_016867685.1:p.Leu720Gln
NM_000238.4:c.2336T>A MANE Select	NP_000229.1:p.Leu779Gln
NM_001204798.2:c.1316T>A	NP_001191727.1:p.Leu439Gln
NM_172057.3:c.1316T>A	NP_742054.1:p.Leu439Gln