Canonical Allele Identifier: CA394823539
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948003T>G , CM000678.2:g.13948003T>G GRCh38
NC_000016.9:g.14041860T>G , CM000678.1:g.14041860T>G GRCh37
NC_000016.8:g.13949361T>G NCBI36
NG_011442.1:g.32847T>G , LRG_463:g.32847T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2545T>G ENSP00000507912.1:p.Cys849Gly
ENST00000683962.1:c.*2101T>G ENSP00000506854.1:n.*2101T>G
ENST00000311895.8:c.2407T>G MANE Select ENSP00000310520.7:p.Cys803Gly
ENST00000311895.7:c.2407T>G ENSP00000310520.7:p.Cys803Gly
ENST00000389138.7:n.1684T>G
ENST00000462862.1:c.720T>G ENSP00000461322.1:n.720T>G
NM_005236.2:c.2407T>G , LRG_463t1:c.2407T>G NP_005227.1:p.Cys803Gly
XM_011522424.1:c.2545T>G XP_011520726.1:p.Cys849Gly
XM_011522425.1:c.1864T>G XP_011520727.1:p.Cys622Gly
XM_011522426.1:c.1618T>G XP_011520728.1:p.Cys540Gly
XM_011522427.1:c.1057T>G XP_011520729.1:p.Cys353Gly
XR_932805.1:n.2566T>G
XM_011522424.3:c.2545T>G XP_011520726.1:p.Cys849Gly
XM_017023043.2:c.1618T>G XP_016878532.1:p.Cys540Gly
NM_005236.3:c.2407T>G MANE Select NP_005227.1:p.Cys803Gly