Canonical Allele Identifier: CA493690186
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948134T>C , CM000678.2:g.13948134T>C GRCh38
NC_000016.9:g.14041991T>C , CM000678.1:g.14041991T>C GRCh37
NC_000016.8:g.13949492T>C NCBI36
NG_011442.1:g.32978T>C , LRG_463:g.32978T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2676T>C ENSP00000507912.1:p.Pro892=
ENST00000683962.1:c.*2232T>C ENSP00000506854.1:n.*2232T>C
ENST00000311895.8:c.2538T>C MANE Select ENSP00000310520.7:p.Pro846=
ENST00000311895.7:c.2538T>C ENSP00000310520.7:p.Pro846=
ENST00000389138.7:n.1815T>C
NM_005236.2:c.2538T>C , LRG_463t1:c.2538T>C NP_005227.1:p.Pro846=
XM_011522424.1:c.2676T>C XP_011520726.1:p.Pro892=
XM_011522425.1:c.1995T>C XP_011520727.1:p.Pro665=
XM_011522426.1:c.1749T>C XP_011520728.1:p.Pro583=
XM_011522427.1:c.1188T>C XP_011520729.1:p.Pro396=
XR_932805.1:n.2697T>C
XM_011522424.3:c.2676T>C XP_011520726.1:p.Pro892=
XM_017023043.2:c.1749T>C XP_016878532.1:p.Pro583=
NM_005236.3:c.2538T>C MANE Select NP_005227.1:p.Pro846=