Canonical Allele Identifier: CA394822549
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs2141620180

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947812G>T , CM000678.2:g.13947812G>T GRCh38
NC_000016.9:g.14041669G>T , CM000678.1:g.14041669G>T GRCh37
NC_000016.8:g.13949170G>T NCBI36
NG_011442.1:g.32656G>T , LRG_463:g.32656G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2354G>T ENSP00000507912.1:p.Gly785Val
ENST00000683962.1:c.*1910G>T ENSP00000506854.1:n.*1910G>T
ENST00000311895.8:c.2216G>T MANE Select ENSP00000310520.7:p.Gly739Val
ENST00000311895.7:c.2216G>T ENSP00000310520.7:p.Gly739Val
ENST00000389138.7:n.1493G>T
ENST00000462862.1:c.529G>T ENSP00000461322.1:n.529G>T
NM_005236.2:c.2216G>T , LRG_463t1:c.2216G>T NP_005227.1:p.Gly739Val
XM_011522424.1:c.2354G>T XP_011520726.1:p.Gly785Val
XM_011522425.1:c.1673G>T XP_011520727.1:p.Gly558Val
XM_011522426.1:c.1427G>T XP_011520728.1:p.Gly476Val
XM_011522427.1:c.866G>T XP_011520729.1:p.Gly289Val
XR_932805.1:n.2375G>T
XM_011522424.3:c.2354G>T XP_011520726.1:p.Gly785Val
XM_017023043.2:c.1427G>T XP_016878532.1:p.Gly476Val
NM_005236.3:c.2216G>T MANE Select NP_005227.1:p.Gly739Val