Canonical Allele Identifier: CA493690008

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041808T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947951T>C , CM000678.2:g.13947951T>C	GRCh38
NC_000016.9:g.14041808T>C , CM000678.1:g.14041808T>C	GRCh37
NC_000016.8:g.13949309T>C	NCBI36
NG_011442.1:g.32795T>C , LRG_463:g.32795T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2493T>C	ENSP00000507912.1:p.Ser831=
ENST00000683962.1:c.*2049T>C	ENSP00000506854.1:n.*2049T>C
ENST00000311895.8:c.2355T>C MANE Select	ENSP00000310520.7:p.Ser785=
ENST00000311895.7:c.2355T>C	ENSP00000310520.7:p.Ser785=
ENST00000389138.7:n.1632T>C
ENST00000462862.1:c.668T>C	ENSP00000461322.1:n.668T>C
NM_005236.2:c.2355T>C , LRG_463t1:c.2355T>C	NP_005227.1:p.Ser785=
XM_011522424.1:c.2493T>C	XP_011520726.1:p.Ser831=
XM_011522425.1:c.1812T>C	XP_011520727.1:p.Ser604=
XM_011522426.1:c.1566T>C	XP_011520728.1:p.Ser522=
XM_011522427.1:c.1005T>C	XP_011520729.1:p.Ser335=
XR_932805.1:n.2514T>C
XM_011522424.3:c.2493T>C	XP_011520726.1:p.Ser831=
XM_017023043.2:c.1566T>C	XP_016878532.1:p.Ser522=
NM_005236.3:c.2355T>C MANE Select	NP_005227.1:p.Ser785=