Canonical Allele Identifier: CA493690201
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948155A>G , CM000678.2:g.13948155A>G GRCh38
NC_000016.9:g.14042012A>G , CM000678.1:g.14042012A>G GRCh37
NC_000016.8:g.13949513A>G NCBI36
NG_011442.1:g.32999A>G , LRG_463:g.32999A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2697A>G ENSP00000507912.1:p.Leu899=
ENST00000683962.1:c.*2253A>G ENSP00000506854.1:n.*2253A>G
ENST00000311895.8:c.2559A>G MANE Select ENSP00000310520.7:p.Leu853=
ENST00000311895.7:c.2559A>G ENSP00000310520.7:p.Leu853=
ENST00000389138.7:n.1836A>G
NM_005236.2:c.2559A>G , LRG_463t1:c.2559A>G NP_005227.1:p.Leu853=
XM_011522424.1:c.2697A>G XP_011520726.1:p.Leu899=
XM_011522425.1:c.2016A>G XP_011520727.1:p.Leu672=
XM_011522426.1:c.1770A>G XP_011520728.1:p.Leu590=
XM_011522427.1:c.1209A>G XP_011520729.1:p.Leu403=
XR_932805.1:n.2718A>G
XM_011522424.3:c.2697A>G XP_011520726.1:p.Leu899=
XM_017023043.2:c.1770A>G XP_016878532.1:p.Leu590=
NM_005236.3:c.2559A>G MANE Select NP_005227.1:p.Leu853=