Canonical Allele Identifier: CA394822993
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947913G>A , CM000678.2:g.13947913G>A GRCh38
NC_000016.9:g.14041770G>A , CM000678.1:g.14041770G>A GRCh37
NC_000016.8:g.13949271G>A NCBI36
NG_011442.1:g.32757G>A , LRG_463:g.32757G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2455G>A ENSP00000507912.1:p.Gly819Ser
ENST00000683962.1:c.*2011G>A ENSP00000506854.1:n.*2011G>A
ENST00000311895.8:c.2317G>A MANE Select ENSP00000310520.7:p.Gly773Ser
ENST00000311895.7:c.2317G>A ENSP00000310520.7:p.Gly773Ser
ENST00000389138.7:n.1594G>A
ENST00000462862.1:c.630G>A ENSP00000461322.1:n.630G>A
NM_005236.2:c.2317G>A , LRG_463t1:c.2317G>A NP_005227.1:p.Gly773Ser
XM_011522424.1:c.2455G>A XP_011520726.1:p.Gly819Ser
XM_011522425.1:c.1774G>A XP_011520727.1:p.Gly592Ser
XM_011522426.1:c.1528G>A XP_011520728.1:p.Gly510Ser
XM_011522427.1:c.967G>A XP_011520729.1:p.Gly323Ser
XR_932805.1:n.2476G>A
XM_011522424.3:c.2455G>A XP_011520726.1:p.Gly819Ser
XM_017023043.2:c.1528G>A XP_016878532.1:p.Gly510Ser
NM_005236.3:c.2317G>A MANE Select NP_005227.1:p.Gly773Ser