Canonical Allele Identifier: CA369853047

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644700G>T (hg19) ; chr7:g.150947612G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947612G>T , CM000669.2:g.150947612G>T	GRCh38
NC_000007.13:g.150644700G>T , CM000669.1:g.150644700G>T	GRCh37
NC_000007.12:g.150275633G>T	NCBI36
NG_008916.1:g.35315C>A , LRG_288:g.35315C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3792C>A
ENST00000262186.10:c.2959C>A MANE Select	ENSP00000262186.5:p.Leu987Met
ENST00000330883.9:c.1939C>A	ENSP00000328531.4:p.Leu647Met
ENST00000262186.9:c.2959C>A	ENSP00000262186.5:p.Leu987Met
ENST00000330883.8:c.1939C>A	ENSP00000328531.4:p.Leu647Met
NM_000238.3:c.2959C>A , LRG_288t1:c.2959C>A	NP_000229.1:p.Leu987Met
NM_172057.2:c.1939C>A , LRG_288t3:c.1939C>A	NP_742054.1:p.Leu647Met
XM_011516185.1:c.2659C>A	XP_011514487.1:p.Leu887Met
XM_011516186.1:c.*39C>A	XP_011514488.1:n.*39C>A
XM_011516185.2:c.2659C>A	XP_011514487.1:p.Leu887Met
XM_011516186.3:c.*39C>A	XP_011514488.1:n.*39C>A
XM_017012195.1:c.2809C>A	XP_016867684.1:p.Leu937Met
XM_017012196.1:c.2782C>A	XP_016867685.1:p.Leu928Met
NM_000238.4:c.2959C>A MANE Select	NP_000229.1:p.Leu987Met
NM_172057.3:c.1939C>A	NP_742054.1:p.Leu647Met