Canonical Allele Identifier: CA14241477
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13921224G>C , CM000678.2:g.13921224G>C GRCh38
NC_000016.9:g.14015081G>C , CM000678.1:g.14015081G>C GRCh37
NC_000016.8:g.13922582G>C NCBI36
NG_011442.1:g.6068G>C , LRG_463:g.6068G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682552.1:n.196-807G>C
ENST00000682568.1:n.137+660G>C
ENST00000682617.1:c.208-807G>C ENSP00000507912.1:n.208-807G>C
ENST00000682826.1:c.208-807G>C ENSP00000507274.1:n.208-807G>C
ENST00000682909.1:n.217-807G>C
ENST00000683277.1:n.1046G>C
ENST00000683407.1:n.216-807G>C
ENST00000683962.1:c.208-807G>C ENSP00000506854.1:n.208-807G>C
ENST00000311895.8:c.208-807G>C MANE Select ENSP00000310520.7:n.208-807G>C
ENST00000311895.7:c.208-807G>C ENSP00000310520.7:n.208-807G>C
ENST00000575156.5:c.208-807G>C ENSP00000459933.1:n.208-807G>C
ENST00000576348.1:n.183-807G>C
NM_005236.2:c.208-807G>C , LRG_463t1:c.208-807G>C NP_005227.1:n.208-807G>C
XM_011522424.1:c.208-807G>C XP_011520726.1:n.208-807G>C
XR_932805.1:n.229-807G>C
XR_933098.1:n.82+5301C>G
XR_933099.1:n.82+5301C>G
XR_933100.1:n.82+5301C>G
XM_011522424.3:c.208-807G>C XP_011520726.1:n.208-807G>C
XM_017023043.2:c.-730-807G>C XP_016878532.1:n.-730-807G>C
NM_005236.3:c.208-807G>C MANE Select NP_005227.1:n.208-807G>C