Canonical Allele Identifier: CA458644551

Gene: KCNH2

Linked Data

• dbSNP Id: rs2116917533
• MyVariant Identifiers: chr7:g.150642521G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945433G>A , CM000669.2:g.150945433G>A	GRCh38
NC_000007.13:g.150642521G>A , CM000669.1:g.150642521G>A	GRCh37
NC_000007.12:g.150273454G>A	NCBI36
NG_008916.1:g.37494C>T , LRG_288:g.37494C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4245C>T
ENST00000262186.10:c.3412C>T MANE Select	ENSP00000262186.5:p.Leu1138=
ENST00000330883.9:c.2392C>T	ENSP00000328531.4:p.Leu798=
ENST00000262186.9:c.3412C>T	ENSP00000262186.5:p.Leu1138=
ENST00000330883.8:c.2392C>T	ENSP00000328531.4:p.Leu798=
NM_000238.3:c.3412C>T , LRG_288t1:c.3412C>T	NP_000229.1:p.Leu1138=
NM_172057.2:c.2392C>T , LRG_288t3:c.2392C>T	NP_742054.1:p.Leu798=
XM_011516185.1:c.3112C>T	XP_011514487.1:p.Leu1038=
XM_011516185.2:c.3112C>T	XP_011514487.1:p.Leu1038=
XM_017012195.1:c.3262C>T	XP_016867684.1:p.Leu1088=
XM_017012196.1:c.3235C>T	XP_016867685.1:p.Leu1079=
NM_000238.4:c.3412C>T MANE Select	NP_000229.1:p.Leu1138=
NM_172057.3:c.2392C>T	NP_742054.1:p.Leu798=