Canonical Allele Identifier: CA369860005

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649756T>A (hg19) ; chr7:g.150952668T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952668T>A , CM000669.2:g.150952668T>A	GRCh38
NC_000007.13:g.150649756T>A , CM000669.1:g.150649756T>A	GRCh37
NC_000007.12:g.150280689T>A	NCBI36
NG_008916.1:g.30259A>T , LRG_288:g.30259A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.612A>T
ENST00000684116.1:n.207A>T
ENST00000684241.1:n.2147A>T
ENST00000262186.10:c.1314A>T MANE Select	ENSP00000262186.5:p.Glu438Asp
ENST00000330883.9:c.294A>T	ENSP00000328531.4:p.Glu98Asp
ENST00000262186.9:c.1314A>T	ENSP00000262186.5:p.Glu438Asp
ENST00000330883.8:c.294A>T	ENSP00000328531.4:p.Glu98Asp
ENST00000430723.4:c.966A>T	ENSP00000387657.4:p.Glu322Asp
ENST00000461280.1:n.601A>T
ENST00000473610.5:n.619A>T
ENST00000532957.5:n.1537A>T
NM_000238.3:c.1314A>T , LRG_288t1:c.1314A>T	NP_000229.1:p.Glu438Asp
NM_001204798.1:c.294A>T	NP_001191727.1:p.Glu98Asp
NM_172056.2:c.1314A>T , LRG_288t2:c.1314A>T	NP_742053.1:p.Glu438Asp
NM_172057.2:c.294A>T , LRG_288t3:c.294A>T	NP_742054.1:p.Glu98Asp
XM_011516185.1:c.1014A>T	XP_011514487.1:p.Glu338Asp
XM_011516186.1:c.1314A>T	XP_011514488.1:p.Glu438Asp
XM_011516185.2:c.1014A>T	XP_011514487.1:p.Glu338Asp
XM_011516186.3:c.1314A>T	XP_011514488.1:p.Glu438Asp
XM_017012195.1:c.1164A>T	XP_016867684.1:p.Glu388Asp
XM_017012196.1:c.1137A>T	XP_016867685.1:p.Glu379Asp
NM_000238.4:c.1314A>T MANE Select	NP_000229.1:p.Glu438Asp
NM_001204798.2:c.294A>T	NP_001191727.1:p.Glu98Asp
NM_172057.3:c.294A>T	NP_742054.1:p.Glu98Asp