Canonical Allele Identifier: CA493443952
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14029184T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935327T>G , CM000678.2:g.13935327T>G GRCh38
NC_000016.9:g.14029184T>G , CM000678.1:g.14029184T>G GRCh37
NC_000016.8:g.13936685T>G NCBI36
NG_011442.1:g.20171T>G , LRG_463:g.20171T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1473T>G
ENST00000682617.1:c.1533T>G ENSP00000507912.1:p.Ser511=
ENST00000682826.1:c.*709T>G ENSP00000507274.1:n.*709T>G
ENST00000682909.1:n.3435T>G
ENST00000683277.1:n.3040T>G
ENST00000683407.1:n.1403T>G
ENST00000683962.1:c.*1089T>G ENSP00000506854.1:n.*1089T>G
ENST00000311895.8:c.1395T>G MANE Select ENSP00000310520.7:p.Ser465=
ENST00000311895.7:c.1395T>G ENSP00000310520.7:p.Ser465=
ENST00000389138.7:n.672T>G
ENST00000573018.1:n.463T>G
NM_005236.2:c.1395T>G , LRG_463t1:c.1395T>G NP_005227.1:p.Ser465=
XM_011522424.1:c.1533T>G XP_011520726.1:p.Ser511=
XM_011522425.1:c.852T>G XP_011520727.1:p.Ser284=
XM_011522426.1:c.606T>G XP_011520728.1:p.Ser202=
XM_011522427.1:c.45T>G XP_011520729.1:p.Ser15=
XR_932805.1:n.1554T>G
XM_011522424.3:c.1533T>G XP_011520726.1:p.Ser511=
XM_017023043.2:c.606T>G XP_016878532.1:p.Ser202=
NM_005236.3:c.1395T>G MANE Select NP_005227.1:p.Ser465=