Canonical Allele Identifier: CA493444471
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14042079T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948222T>C , CM000678.2:g.13948222T>C GRCh38
NC_000016.9:g.14042079T>C , CM000678.1:g.14042079T>C GRCh37
NC_000016.8:g.13949580T>C NCBI36
NG_011442.1:g.33066T>C , LRG_463:g.33066T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2764T>C ENSP00000507912.1:p.Leu922=
ENST00000683962.1:c.*2320T>C ENSP00000506854.1:n.*2320T>C
ENST00000311895.8:c.2626T>C MANE Select ENSP00000310520.7:p.Leu876=
ENST00000311895.7:c.2626T>C ENSP00000310520.7:p.Leu876=
ENST00000389138.7:n.1903T>C
NM_005236.2:c.2626T>C , LRG_463t1:c.2626T>C NP_005227.1:p.Leu876=
XM_011522424.1:c.2764T>C XP_011520726.1:p.Leu922=
XM_011522425.1:c.2083T>C XP_011520727.1:p.Leu695=
XM_011522426.1:c.1837T>C XP_011520728.1:p.Leu613=
XM_011522427.1:c.1276T>C XP_011520729.1:p.Leu426=
XR_932805.1:n.2785T>C
XM_011522424.3:c.2764T>C XP_011520726.1:p.Leu922=
XM_017023043.2:c.1837T>C XP_016878532.1:p.Leu613=
NM_005236.3:c.2626T>C MANE Select NP_005227.1:p.Leu876=