Canonical Allele Identifier: CA008140

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946960T>C , CM000669.2:g.150946960T>C	GRCh38
NC_000007.13:g.150644048T>C , CM000669.1:g.150644048T>C	GRCh37
NC_000007.12:g.150274981T>C	NCBI36
NG_008916.1:g.35967A>G , LRG_288:g.35967A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.3247A>G MANE Select	NP_000229.1:p.Thr1083Ala
ENST00000262186.10:c.3247A>G MANE Select	ENSP00000262186.5:p.Thr1083Ala
NM_000238.3:c.3247A>G , LRG_288t1:c.3247A>G	NP_000229.1:p.Thr1083Ala
NM_172057.2:c.2227A>G , LRG_288t3:c.2227A>G	NP_742054.1:p.Thr743Ala
NM_172057.3:c.2227A>G	NP_742054.1:p.Thr743Ala
ENST00000262186.9:c.3247A>G	ENSP00000262186.5:p.Thr1083Ala
ENST00000330883.8:c.2227A>G	ENSP00000328531.4:p.Thr743Ala
ENST00000330883.9:c.2227A>G	ENSP00000328531.4:p.Thr743Ala
ENST00000684241.1:n.4080A>G
XM_011516185.1:c.2947A>G	XP_011514487.1:p.Thr983Ala
XM_011516185.2:c.2947A>G	XP_011514487.1:p.Thr983Ala
XM_017012195.1:c.3097A>G	XP_016867684.1:p.Thr1033Ala
XM_017012196.1:c.3070A>G	XP_016867685.1:p.Thr1024Ala