Canonical Allele Identifier: CA369852941

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947477C>G , CM000669.2:g.150947477C>G	GRCh38
NC_000007.13:g.150644565C>G , CM000669.1:g.150644565C>G	GRCh37
NC_000007.12:g.150275498C>G	NCBI36
NG_008916.1:g.35450G>C , LRG_288:g.35450G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.3003G>C MANE Select	NP_000229.1:p.Trp1001Cys
ENST00000262186.10:c.3003G>C MANE Select	ENSP00000262186.5:p.Trp1001Cys
NM_000238.3:c.3003G>C , LRG_288t1:c.3003G>C	NP_000229.1:p.Trp1001Cys
NM_172057.2:c.1983G>C , LRG_288t3:c.1983G>C	NP_742054.1:p.Trp661Cys
NM_172057.3:c.1983G>C	NP_742054.1:p.Trp661Cys
ENST00000262186.9:c.3003G>C	ENSP00000262186.5:p.Trp1001Cys
ENST00000330883.8:c.1983G>C	ENSP00000328531.4:p.Trp661Cys
ENST00000330883.9:c.1983G>C	ENSP00000328531.4:p.Trp661Cys
ENST00000684241.1:n.3836G>C
XM_011516185.1:c.2703G>C	XP_011514487.1:p.Trp901Cys
XM_011516185.2:c.2703G>C	XP_011514487.1:p.Trp901Cys
XM_011516186.1:c.*83G>C	XP_011514488.1:n.*83G>C
XM_011516186.3:c.*83G>C	XP_011514488.1:n.*83G>C
XM_017012195.1:c.2853G>C	XP_016867684.1:p.Trp951Cys
XM_017012196.1:c.2826G>C	XP_016867685.1:p.Trp942Cys