Canonical Allele Identifier: CA2575915940
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944704A>C , CM000678.2:g.13944704A>C GRCh38
NC_000016.9:g.14038561A>C , CM000678.1:g.14038561A>C GRCh37
NC_000016.8:g.13946062A>C NCBI36
NG_011442.1:g.29548A>C , LRG_463:g.29548A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2043-19A>C ENSP00000507912.1:n.2043-19A>C
ENST00000683962.1:c.*1599-19A>C ENSP00000506854.1:n.*1599-19A>C
ENST00000311895.8:c.1905-19A>C MANE Select ENSP00000310520.7:n.1905-19A>C
ENST00000311895.7:c.1905-19A>C ENSP00000310520.7:n.1905-19A>C
ENST00000389138.7:n.1182-19A>C
ENST00000462862.1:c.218-19A>C ENSP00000461322.1:n.218-19A>C
NM_005236.2:c.1905-19A>C , LRG_463t1:c.1905-19A>C NP_005227.1:n.1905-19A>C
XM_011522424.1:c.2043-19A>C XP_011520726.1:n.2043-19A>C
XM_011522425.1:c.1362-19A>C XP_011520727.1:n.1362-19A>C
XM_011522426.1:c.1116-19A>C XP_011520728.1:n.1116-19A>C
XM_011522427.1:c.555-19A>C XP_011520729.1:n.555-19A>C
XR_932805.1:n.2064-19A>C
XM_011522424.3:c.2043-19A>C XP_011520726.1:n.2043-19A>C
XM_017023043.2:c.1116-19A>C XP_016878532.1:n.1116-19A>C
NM_005236.3:c.1905-19A>C MANE Select NP_005227.1:n.1905-19A>C