Canonical Allele Identifier: CA10642903
Gene: ERCC4 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13930757G>A , CM000678.2:g.13930757G>A GRCh38
NC_000016.9:g.14024614G>A , CM000678.1:g.14024614G>A GRCh37
NC_000016.8:g.13932115G>A NCBI36
NG_011442.1:g.15601G>A , LRG_463:g.15601G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682552.1:n.828G>A
ENST00000682568.1:n.918G>A
ENST00000682617.1:c.978G>A ENSP00000507912.1:p.Lys326=
ENST00000682826.1:c.*154G>A ENSP00000507274.1:n.*154G>A
ENST00000682909.1:n.2880G>A
ENST00000683277.1:n.2485G>A
ENST00000683407.1:n.848G>A
ENST00000683962.1:c.*534G>A ENSP00000506854.1:n.*534G>A
ENST00000311895.8:c.840G>A MANE Select ENSP00000310520.7:p.Lys280=
ENST00000311895.7:c.840G>A ENSP00000310520.7:p.Lys280=
ENST00000574194.1:c.367G>A
ENST00000574781.1:n.517G>A
ENST00000575156.5:c.840G>A ENSP00000459933.1:p.Lys280=
NM_005236.2:c.840G>A , LRG_463t1:c.840G>A NP_005227.1:p.Lys280=
XM_011522424.1:c.978G>A XP_011520726.1:p.Lys326=
XM_011522425.1:c.297G>A XP_011520727.1:p.Lys99=
XM_011522426.1:c.51G>A XP_011520728.1:p.Lys17=
XR_932805.1:n.999G>A
XM_011522424.3:c.978G>A XP_011520726.1:p.Lys326=
XM_017023043.2:c.51G>A XP_016878532.1:p.Lys17=
NM_005236.3:c.840G>A MANE Select NP_005227.1:p.Lys280=