Canonical Allele Identifier: CA369865618

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150671901G>T (hg19) ; chr7:g.150974813G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974813G>T , CM000669.2:g.150974813G>T	GRCh38
NC_000007.13:g.150671901G>T , CM000669.1:g.150671901G>T	GRCh37
NC_000007.12:g.150302834G>T	NCBI36
NG_008916.1:g.8114C>A , LRG_288:g.8114C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.205C>A MANE Select	ENSP00000262186.5:p.Leu69Met
ENST00000262186.9:c.205C>A	ENSP00000262186.5:p.Leu69Met
ENST00000430723.4:c.28C>A	ENSP00000387657.4:p.Leu10Met
ENST00000532957.5:n.428C>A
NM_000238.3:c.205C>A , LRG_288t1:c.205C>A	NP_000229.1:p.Leu69Met
NM_172056.2:c.205C>A , LRG_288t2:c.205C>A	NP_742053.1:p.Leu69Met
XM_011516186.1:c.205C>A	XP_011514488.1:p.Leu69Met
XM_011516186.3:c.205C>A	XP_011514488.1:p.Leu69Met
XM_017012196.1:c.28C>A	XP_016867685.1:p.Leu10Met
NM_000238.4:c.205C>A MANE Select	NP_000229.1:p.Leu69Met