Canonical Allele Identifier: CA394823869
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948043T>C , CM000678.2:g.13948043T>C GRCh38
NC_000016.9:g.14041900T>C , CM000678.1:g.14041900T>C GRCh37
NC_000016.8:g.13949401T>C NCBI36
NG_011442.1:g.32887T>C , LRG_463:g.32887T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2585T>C ENSP00000507912.1:p.Leu862Pro
ENST00000683962.1:c.*2141T>C ENSP00000506854.1:n.*2141T>C
ENST00000311895.8:c.2447T>C MANE Select ENSP00000310520.7:p.Leu816Pro
ENST00000311895.7:c.2447T>C ENSP00000310520.7:p.Leu816Pro
ENST00000389138.7:n.1724T>C
NM_005236.2:c.2447T>C , LRG_463t1:c.2447T>C NP_005227.1:p.Leu816Pro
XM_011522424.1:c.2585T>C XP_011520726.1:p.Leu862Pro
XM_011522425.1:c.1904T>C XP_011520727.1:p.Leu635Pro
XM_011522426.1:c.1658T>C XP_011520728.1:p.Leu553Pro
XM_011522427.1:c.1097T>C XP_011520729.1:p.Leu366Pro
XR_932805.1:n.2606T>C
XM_011522424.3:c.2585T>C XP_011520726.1:p.Leu862Pro
XM_017023043.2:c.1658T>C XP_016878532.1:p.Leu553Pro
NM_005236.3:c.2447T>C MANE Select NP_005227.1:p.Leu816Pro