Canonical Allele Identifier: CA2209073338
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935609T= , CM000678.2:g.13935609T= GRCh38
NC_000016.9:g.14029466T= , CM000678.1:g.14029466T= GRCh37
NC_000016.8:g.13936967T= NCBI36
NG_011442.1:g.20453T= , LRG_463:g.20453T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1755T=
ENST00000682617.1:c.1815T= ENSP00000507912.1:p.Gly605=
ENST00000682826.1:c.*991T= ENSP00000507274.1:n.*991T=
ENST00000682909.1:n.3717T=
ENST00000683277.1:n.3322T=
ENST00000683407.1:n.1685T=
ENST00000683962.1:c.*1371T= ENSP00000506854.1:n.*1371T=
ENST00000311895.8:c.1677T= MANE Select ENSP00000310520.7:p.Gly559=
ENST00000311895.7:c.1677T= ENSP00000310520.7:p.Gly559=
ENST00000389138.7:n.954T=
NM_005236.2:c.1677T= , LRG_463t1:c.1677T= NP_005227.1:p.Gly559=
XM_011522424.1:c.1815T= XP_011520726.1:p.Gly605=
XM_011522425.1:c.1134T= XP_011520727.1:p.Gly378=
XM_011522426.1:c.888T= XP_011520728.1:p.Gly296=
XM_011522427.1:c.327T= XP_011520729.1:p.Gly109=
XR_932805.1:n.1836T=
XM_011522424.3:c.1815T= XP_011520726.1:p.Gly605=
XM_017023043.2:c.888T= XP_016878532.1:p.Gly296=
NM_005236.3:c.1677T= MANE Select NP_005227.1:p.Gly559=