Canonical Allele Identifier: CA394823714
Gene: ERCC4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948027G>A , CM000678.2:g.13948027G>A GRCh38
NC_000016.9:g.14041884G>A , CM000678.1:g.14041884G>A GRCh37
NC_000016.8:g.13949385G>A NCBI36
NG_011442.1:g.32871G>A , LRG_463:g.32871G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2569G>A ENSP00000507912.1:p.Glu857Lys
ENST00000683962.1:c.*2125G>A ENSP00000506854.1:n.*2125G>A
ENST00000311895.8:c.2431G>A MANE Select ENSP00000310520.7:p.Glu811Lys
ENST00000311895.7:c.2431G>A ENSP00000310520.7:p.Glu811Lys
ENST00000389138.7:n.1708G>A
NM_005236.2:c.2431G>A , LRG_463t1:c.2431G>A NP_005227.1:p.Glu811Lys
XM_011522424.1:c.2569G>A XP_011520726.1:p.Glu857Lys
XM_011522425.1:c.1888G>A XP_011520727.1:p.Glu630Lys
XM_011522426.1:c.1642G>A XP_011520728.1:p.Glu548Lys
XM_011522427.1:c.1081G>A XP_011520729.1:p.Glu361Lys
XR_932805.1:n.2590G>A
XM_011522424.3:c.2569G>A XP_011520726.1:p.Glu857Lys
XM_017023043.2:c.1642G>A XP_016878532.1:p.Glu548Lys
NM_005236.3:c.2431G>A MANE Select NP_005227.1:p.Glu811Lys