Canonical Allele Identifier: CA394817906
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944793G>C , CM000678.2:g.13944793G>C GRCh38
NC_000016.9:g.14038650G>C , CM000678.1:g.14038650G>C GRCh37
NC_000016.8:g.13946151G>C NCBI36
NG_011442.1:g.29637G>C , LRG_463:g.29637G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2113G>C ENSP00000507912.1:p.Gly705Arg
ENST00000683962.1:c.*1669G>C ENSP00000506854.1:n.*1669G>C
ENST00000311895.8:c.1975G>C MANE Select ENSP00000310520.7:p.Gly659Arg
ENST00000311895.7:c.1975G>C ENSP00000310520.7:p.Gly659Arg
ENST00000389138.7:n.1252G>C
ENST00000462862.1:c.288G>C ENSP00000461322.1:n.288G>C
NM_005236.2:c.1975G>C , LRG_463t1:c.1975G>C NP_005227.1:p.Gly659Arg
XM_011522424.1:c.2113G>C XP_011520726.1:p.Gly705Arg
XM_011522425.1:c.1432G>C XP_011520727.1:p.Gly478Arg
XM_011522426.1:c.1186G>C XP_011520728.1:p.Gly396Arg
XM_011522427.1:c.625G>C XP_011520729.1:p.Gly209Arg
XR_932805.1:n.2134G>C
XM_011522424.3:c.2113G>C XP_011520726.1:p.Gly705Arg
XM_017023043.2:c.1186G>C XP_016878532.1:p.Gly396Arg
NM_005236.3:c.1975G>C MANE Select NP_005227.1:p.Gly659Arg