Canonical Allele Identifier: CA493444479
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14042088C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948231C>T , CM000678.2:g.13948231C>T GRCh38
NC_000016.9:g.14042088C>T , CM000678.1:g.14042088C>T GRCh37
NC_000016.8:g.13949589C>T NCBI36
NG_011442.1:g.33075C>T , LRG_463:g.33075C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2773C>T ENSP00000507912.1:p.Leu925=
ENST00000683962.1:c.*2329C>T ENSP00000506854.1:n.*2329C>T
ENST00000311895.8:c.2635C>T MANE Select ENSP00000310520.7:p.Leu879=
ENST00000311895.7:c.2635C>T ENSP00000310520.7:p.Leu879=
ENST00000389138.7:n.1912C>T
NM_005236.2:c.2635C>T , LRG_463t1:c.2635C>T NP_005227.1:p.Leu879=
XM_011522424.1:c.2773C>T XP_011520726.1:p.Leu925=
XM_011522425.1:c.2092C>T XP_011520727.1:p.Leu698=
XM_011522426.1:c.1846C>T XP_011520728.1:p.Leu616=
XM_011522427.1:c.1285C>T XP_011520729.1:p.Leu429=
XR_932805.1:n.2794C>T
XM_011522424.3:c.2773C>T XP_011520726.1:p.Leu925=
XM_017023043.2:c.1846C>T XP_016878532.1:p.Leu616=
NM_005236.3:c.2635C>T MANE Select NP_005227.1:p.Leu879=