Canonical Allele Identifier: CA369856081

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950225A>G , CM000669.2:g.150950225A>G	GRCh38
NC_000007.13:g.150647313A>G , CM000669.1:g.150647313A>G	GRCh37
NC_000007.12:g.150278246A>G	NCBI36
NG_008916.1:g.32702T>C , LRG_288:g.32702T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2341T>C MANE Select	NP_000229.1:p.Phe781Leu
ENST00000262186.10:c.2341T>C MANE Select	ENSP00000262186.5:p.Phe781Leu
NM_000238.3:c.2341T>C , LRG_288t1:c.2341T>C	NP_000229.1:p.Phe781Leu
NM_001204798.1:c.1321T>C	NP_001191727.1:p.Phe441Leu
NM_001204798.2:c.1321T>C	NP_001191727.1:p.Phe441Leu
NM_172056.2:c.2341T>C , LRG_288t2:c.2341T>C	NP_742053.1:p.Phe781Leu
NM_172057.2:c.1321T>C , LRG_288t3:c.1321T>C	NP_742054.1:p.Phe441Leu
NM_172057.3:c.1321T>C	NP_742054.1:p.Phe441Leu
ENST00000262186.9:c.2341T>C	ENSP00000262186.5:p.Phe781Leu
ENST00000330883.8:c.1321T>C	ENSP00000328531.4:p.Phe441Leu
ENST00000330883.9:c.1321T>C	ENSP00000328531.4:p.Phe441Leu
ENST00000430723.4:c.1993T>C	ENSP00000387657.4:p.Phe665Leu
ENST00000461280.1:n.1628T>C
ENST00000461280.2:n.1639T>C
ENST00000473610.5:n.1973T>C
ENST00000532957.5:n.2564T>C
ENST00000684241.1:n.3174T>C
XM_011516185.1:c.2041T>C	XP_011514487.1:p.Phe681Leu
XM_011516185.2:c.2041T>C	XP_011514487.1:p.Phe681Leu
XM_011516186.1:c.2341T>C	XP_011514488.1:p.Phe781Leu
XM_011516186.3:c.2341T>C	XP_011514488.1:p.Phe781Leu
XM_017012195.1:c.2191T>C	XP_016867684.1:p.Phe731Leu
XM_017012196.1:c.2164T>C	XP_016867685.1:p.Phe722Leu