Canonical Allele Identifier: CA493689586
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14029586T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935729T>A , CM000678.2:g.13935729T>A GRCh38
NC_000016.9:g.14029586T>A , CM000678.1:g.14029586T>A GRCh37
NC_000016.8:g.13937087T>A NCBI36
NG_011442.1:g.20573T>A , LRG_463:g.20573T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1875T>A
ENST00000682617.1:c.1935T>A ENSP00000507912.1:p.Pro645=
ENST00000682826.1:c.*1111T>A ENSP00000507274.1:n.*1111T>A
ENST00000682909.1:n.3837T>A
ENST00000683277.1:n.3442T>A
ENST00000683407.1:n.1805T>A
ENST00000683962.1:c.*1491T>A ENSP00000506854.1:n.*1491T>A
ENST00000311895.8:c.1797T>A MANE Select ENSP00000310520.7:p.Pro599=
ENST00000311895.7:c.1797T>A ENSP00000310520.7:p.Pro599=
ENST00000389138.7:n.1074T>A
NM_005236.2:c.1797T>A , LRG_463t1:c.1797T>A NP_005227.1:p.Pro599=
XM_011522424.1:c.1935T>A XP_011520726.1:p.Pro645=
XM_011522425.1:c.1254T>A XP_011520727.1:p.Pro418=
XM_011522426.1:c.1008T>A XP_011520728.1:p.Pro336=
XM_011522427.1:c.447T>A XP_011520729.1:p.Pro149=
XR_932805.1:n.1956T>A
XM_011522424.3:c.1935T>A XP_011520726.1:p.Pro645=
XM_017023043.2:c.1008T>A XP_016878532.1:p.Pro336=
NM_005236.3:c.1797T>A MANE Select NP_005227.1:p.Pro599=