Canonical Allele Identifier: CA278485741
Gene: ERCC4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2415203
ClinVar RCV Id: RCV003110622
dbSNP Id: rs972892828

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948135G>T , CM000678.2:g.13948135G>T GRCh38
NC_000016.9:g.14041992G>T , CM000678.1:g.14041992G>T GRCh37
NC_000016.8:g.13949493G>T NCBI36
NG_011442.1:g.32979G>T , LRG_463:g.32979G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2677G>T ENSP00000507912.1:p.Gly893Cys
ENST00000683962.1:c.*2233G>T ENSP00000506854.1:n.*2233G>T
ENST00000311895.8:c.2539G>T MANE Select ENSP00000310520.7:p.Gly847Cys
ENST00000311895.7:c.2539G>T ENSP00000310520.7:p.Gly847Cys
ENST00000389138.7:n.1816G>T
NM_005236.2:c.2539G>T , LRG_463t1:c.2539G>T NP_005227.1:p.Gly847Cys
XM_011522424.1:c.2677G>T XP_011520726.1:p.Gly893Cys
XM_011522425.1:c.1996G>T XP_011520727.1:p.Gly666Cys
XM_011522426.1:c.1750G>T XP_011520728.1:p.Gly584Cys
XM_011522427.1:c.1189G>T XP_011520729.1:p.Gly397Cys
XR_932805.1:n.2698G>T
XM_011522424.3:c.2677G>T XP_011520726.1:p.Gly893Cys
XM_017023043.2:c.1750G>T XP_016878532.1:p.Gly584Cys
NM_005236.3:c.2539G>T MANE Select NP_005227.1:p.Gly847Cys