Canonical Allele Identifier: CA394811617
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs1317427563

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935506G>T , CM000678.2:g.13935506G>T GRCh38
NC_000016.9:g.14029363G>T , CM000678.1:g.14029363G>T GRCh37
NC_000016.8:g.13936864G>T NCBI36
NG_011442.1:g.20350G>T , LRG_463:g.20350G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1652G>T
ENST00000682617.1:c.1712G>T ENSP00000507912.1:p.Cys571Phe
ENST00000682826.1:c.*888G>T ENSP00000507274.1:n.*888G>T
ENST00000682909.1:n.3614G>T
ENST00000683277.1:n.3219G>T
ENST00000683407.1:n.1582G>T
ENST00000683962.1:c.*1268G>T ENSP00000506854.1:n.*1268G>T
ENST00000311895.8:c.1574G>T MANE Select ENSP00000310520.7:p.Cys525Phe
ENST00000311895.7:c.1574G>T ENSP00000310520.7:p.Cys525Phe
ENST00000389138.7:n.851G>T
NM_005236.2:c.1574G>T , LRG_463t1:c.1574G>T NP_005227.1:p.Cys525Phe
XM_011522424.1:c.1712G>T XP_011520726.1:p.Cys571Phe
XM_011522425.1:c.1031G>T XP_011520727.1:p.Cys344Phe
XM_011522426.1:c.785G>T XP_011520728.1:p.Cys262Phe
XM_011522427.1:c.224G>T XP_011520729.1:p.Cys75Phe
XR_932805.1:n.1733G>T
XM_011522424.3:c.1712G>T XP_011520726.1:p.Cys571Phe
XM_017023043.2:c.785G>T XP_016878532.1:p.Cys262Phe
NM_005236.3:c.1574G>T MANE Select NP_005227.1:p.Cys525Phe