Canonical Allele Identifier: CA493690189
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14041994T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948137T>C , CM000678.2:g.13948137T>C GRCh38
NC_000016.9:g.14041994T>C , CM000678.1:g.14041994T>C GRCh37
NC_000016.8:g.13949495T>C NCBI36
NG_011442.1:g.32981T>C , LRG_463:g.32981T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2679T>C ENSP00000507912.1:p.Gly893=
ENST00000683962.1:c.*2235T>C ENSP00000506854.1:n.*2235T>C
ENST00000311895.8:c.2541T>C MANE Select ENSP00000310520.7:p.Gly847=
ENST00000311895.7:c.2541T>C ENSP00000310520.7:p.Gly847=
ENST00000389138.7:n.1818T>C
NM_005236.2:c.2541T>C , LRG_463t1:c.2541T>C NP_005227.1:p.Gly847=
XM_011522424.1:c.2679T>C XP_011520726.1:p.Gly893=
XM_011522425.1:c.1998T>C XP_011520727.1:p.Gly666=
XM_011522426.1:c.1752T>C XP_011520728.1:p.Gly584=
XM_011522427.1:c.1191T>C XP_011520729.1:p.Gly397=
XR_932805.1:n.2700T>C
XM_011522424.3:c.2679T>C XP_011520726.1:p.Gly893=
XM_017023043.2:c.1752T>C XP_016878532.1:p.Gly584=
NM_005236.3:c.2541T>C MANE Select NP_005227.1:p.Gly847=