Canonical Allele Identifier: CA493425356
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14022059T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13928202T>C , CM000678.2:g.13928202T>C GRCh38
NC_000016.9:g.14022059T>C , CM000678.1:g.14022059T>C GRCh37
NC_000016.8:g.13929560T>C NCBI36
NG_011442.1:g.13046T>C , LRG_463:g.13046T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682552.1:n.747T>C
ENST00000682568.1:n.689T>C
ENST00000682617.1:c.897T>C ENSP00000507912.1:p.Ser299=
ENST00000682826.1:c.759T>C ENSP00000507274.1:p.Ser253=
ENST00000682909.1:n.2799T>C
ENST00000683277.1:n.2404T>C
ENST00000683407.1:n.767T>C
ENST00000683962.1:c.*453T>C ENSP00000506854.1:n.*453T>C
ENST00000311895.8:c.759T>C MANE Select ENSP00000310520.7:p.Ser253=
ENST00000311895.7:c.759T>C ENSP00000310520.7:p.Ser253=
ENST00000574194.1:c.286T>C
ENST00000574781.1:n.436T>C
ENST00000575156.5:c.759T>C ENSP00000459933.1:p.Ser253=
NM_005236.2:c.759T>C , LRG_463t1:c.759T>C NP_005227.1:p.Ser253=
XM_011522424.1:c.897T>C XP_011520726.1:p.Ser299=
XM_011522425.1:c.216T>C XP_011520727.1:p.Ser72=
XR_932805.1:n.918T>C
XM_011522424.3:c.897T>C XP_011520726.1:p.Ser299=
XM_017023043.2:c.-179T>C XP_016878532.1:n.-179T>C
NM_005236.3:c.759T>C MANE Select NP_005227.1:p.Ser253=