Canonical Allele Identifier: CA369863828

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150656774C>T (hg19) ; chr7:g.150959686C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959686C>T , CM000669.2:g.150959686C>T	GRCh38
NC_000007.13:g.150656774C>T , CM000669.1:g.150656774C>T	GRCh37
NC_000007.12:g.150287707C>T	NCBI36
NG_008916.1:g.23241G>A , LRG_288:g.23241G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1191G>A
ENST00000262186.10:c.358G>A MANE Select	ENSP00000262186.5:p.Gly120Arg
ENST00000262186.9:c.358G>A	ENSP00000262186.5:p.Gly120Arg
ENST00000430723.4:c.181G>A	ENSP00000387657.4:p.Gly61Arg
ENST00000532957.5:n.581G>A
NM_000238.3:c.358G>A , LRG_288t1:c.358G>A	NP_000229.1:p.Gly120Arg
NM_172056.2:c.358G>A , LRG_288t2:c.358G>A	NP_742053.1:p.Gly120Arg
XM_011516185.1:c.58G>A	XP_011514487.1:p.Gly20Arg
XM_011516186.1:c.358G>A	XP_011514488.1:p.Gly120Arg
XM_011516185.2:c.58G>A	XP_011514487.1:p.Gly20Arg
XM_011516186.3:c.358G>A	XP_011514488.1:p.Gly120Arg
XM_017012195.1:c.208G>A	XP_016867684.1:p.Gly70Arg
XM_017012196.1:c.181G>A	XP_016867685.1:p.Gly61Arg
NM_000238.4:c.358G>A MANE Select	NP_000229.1:p.Gly120Arg