Canonical Allele Identifier: CA394817242
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944727A>C , CM000678.2:g.13944727A>C GRCh38
NC_000016.9:g.14038584A>C , CM000678.1:g.14038584A>C GRCh37
NC_000016.8:g.13946085A>C NCBI36
NG_011442.1:g.29571A>C , LRG_463:g.29571A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2047A>C ENSP00000507912.1:p.Lys683Gln
ENST00000683962.1:c.*1603A>C ENSP00000506854.1:n.*1603A>C
ENST00000311895.8:c.1909A>C MANE Select ENSP00000310520.7:p.Lys637Gln
ENST00000311895.7:c.1909A>C ENSP00000310520.7:p.Lys637Gln
ENST00000389138.7:n.1186A>C
ENST00000462862.1:c.222A>C ENSP00000461322.1:n.222A>C
NM_005236.2:c.1909A>C , LRG_463t1:c.1909A>C NP_005227.1:p.Lys637Gln
XM_011522424.1:c.2047A>C XP_011520726.1:p.Lys683Gln
XM_011522425.1:c.1366A>C XP_011520727.1:p.Lys456Gln
XM_011522426.1:c.1120A>C XP_011520728.1:p.Lys374Gln
XM_011522427.1:c.559A>C XP_011520729.1:p.Lys187Gln
XR_932805.1:n.2068A>C
XM_011522424.3:c.2047A>C XP_011520726.1:p.Lys683Gln
XM_017023043.2:c.1120A>C XP_016878532.1:p.Lys374Gln
NM_005236.3:c.1909A>C MANE Select NP_005227.1:p.Lys637Gln