Canonical Allele Identifier: CA394808760
Community Standard Title: NM_005236.3(ERCC4):c.1214-1G>A
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935145G>A , CM000678.2:g.13935145G>A GRCh38
NC_000016.9:g.14029002G>A , CM000678.1:g.14029002G>A GRCh37
NC_000016.8:g.13936503G>A NCBI36
NG_011442.1:g.19989G>A , LRG_463:g.19989G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.1214-1G>A MANE Select NP_005227.1:n.1214-1G>A
ENST00000311895.8:c.1214-1G>A MANE Select ENSP00000310520.7:n.1214-1G>A
NM_005236.2:c.1214-1G>A , LRG_463t1:c.1214-1G>A NP_005227.1:n.1214-1G>A
ENST00000311895.7:c.1214-1G>A ENSP00000310520.7:n.1214-1G>A
ENST00000389138.7:n.491-1G>A
ENST00000573018.1:n.282-1G>A
ENST00000682568.1:n.1292-1G>A
ENST00000682617.1:c.1352-1G>A ENSP00000507912.1:n.1352-1G>A
ENST00000682826.1:c.*528-1G>A ENSP00000507274.1:n.*528-1G>A
ENST00000682909.1:n.3254-1G>A
ENST00000683277.1:n.2859-1G>A
ENST00000683407.1:n.1222-1G>A
ENST00000683962.1:c.*908-1G>A ENSP00000506854.1:n.*908-1G>A
XM_011522424.1:c.1352-1G>A XP_011520726.1:n.1352-1G>A
XM_011522424.3:c.1352-1G>A XP_011520726.1:n.1352-1G>A
XM_011522425.1:c.671-1G>A XP_011520727.1:n.671-1G>A
XM_011522426.1:c.425-1G>A XP_011520728.1:n.425-1G>A
XM_011522427.1:c.-137-1G>A XP_011520729.1:n.-137-1G>A
XM_017023043.2:c.425-1G>A XP_016878532.1:n.425-1G>A
XR_932805.1:n.1373-1G>A