Canonical Allele Identifier: CA369861690

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801410888
• gnomAD v3: 7-150957424-T-A
• gnomAD v4: 7-150957424-T-A
• MyVariant Identifiers: chr7:g.150654512T>A (hg19) ; chr7:g.150957424T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957424T>A , CM000669.2:g.150957424T>A	GRCh38
NC_000007.13:g.150654512T>A , CM000669.1:g.150654512T>A	GRCh37
NC_000007.12:g.150285445T>A	NCBI36
NG_008916.1:g.25503A>T , LRG_288:g.25503A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1828A>T
ENST00000262186.10:c.995A>T MANE Select	ENSP00000262186.5:p.Lys332Met
ENST00000262186.9:c.995A>T	ENSP00000262186.5:p.Lys332Met
ENST00000430723.4:c.647A>T	ENSP00000387657.4:p.Lys216Met
ENST00000532957.5:n.1218A>T
NM_000238.3:c.995A>T , LRG_288t1:c.995A>T	NP_000229.1:p.Lys332Met
NM_172056.2:c.995A>T , LRG_288t2:c.995A>T	NP_742053.1:p.Lys332Met
XM_011516185.1:c.695A>T	XP_011514487.1:p.Lys232Met
XM_011516186.1:c.995A>T	XP_011514488.1:p.Lys332Met
XM_011516185.2:c.695A>T	XP_011514487.1:p.Lys232Met
XM_011516186.3:c.995A>T	XP_011514488.1:p.Lys332Met
XM_017012195.1:c.845A>T	XP_016867684.1:p.Lys282Met
XM_017012196.1:c.818A>T	XP_016867685.1:p.Lys273Met
NM_000238.4:c.995A>T MANE Select	NP_000229.1:p.Lys332Met