Canonical Allele Identifier: CA394817563
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs1356223407

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944757G>T , CM000678.2:g.13944757G>T GRCh38
NC_000016.9:g.14038614G>T , CM000678.1:g.14038614G>T GRCh37
NC_000016.8:g.13946115G>T NCBI36
NG_011442.1:g.29601G>T , LRG_463:g.29601G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2077G>T ENSP00000507912.1:p.Glu693Ter
ENST00000683962.1:c.*1633G>T ENSP00000506854.1:n.*1633G>T
ENST00000311895.8:c.1939G>T MANE Select ENSP00000310520.7:p.Glu647Ter
ENST00000311895.7:c.1939G>T ENSP00000310520.7:p.Glu647Ter
ENST00000389138.7:n.1216G>T
ENST00000462862.1:c.252G>T ENSP00000461322.1:n.252G>T
NM_005236.2:c.1939G>T , LRG_463t1:c.1939G>T NP_005227.1:p.Glu647Ter
XM_011522424.1:c.2077G>T XP_011520726.1:p.Glu693Ter
XM_011522425.1:c.1396G>T XP_011520727.1:p.Glu466Ter
XM_011522426.1:c.1150G>T XP_011520728.1:p.Glu384Ter
XM_011522427.1:c.589G>T XP_011520729.1:p.Glu197Ter
XR_932805.1:n.2098G>T
XM_011522424.3:c.2077G>T XP_011520726.1:p.Glu693Ter
XM_017023043.2:c.1150G>T XP_016878532.1:p.Glu384Ter
NM_005236.3:c.1939G>T MANE Select NP_005227.1:p.Glu647Ter