Canonical Allele Identifier: CA394812807

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029583G>C (hg19) ; chr16:g.13935726G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935726G>C , CM000678.2:g.13935726G>C	GRCh38
NC_000016.9:g.14029583G>C , CM000678.1:g.14029583G>C	GRCh37
NC_000016.8:g.13937084G>C	NCBI36
NG_011442.1:g.20570G>C , LRG_463:g.20570G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1872G>C
ENST00000682617.1:c.1932G>C	ENSP00000507912.1:p.Arg644Ser
ENST00000682826.1:c.*1108G>C	ENSP00000507274.1:n.*1108G>C
ENST00000682909.1:n.3834G>C
ENST00000683277.1:n.3439G>C
ENST00000683407.1:n.1802G>C
ENST00000683962.1:c.*1488G>C	ENSP00000506854.1:n.*1488G>C
ENST00000311895.8:c.1794G>C MANE Select	ENSP00000310520.7:p.Arg598Ser
ENST00000311895.7:c.1794G>C	ENSP00000310520.7:p.Arg598Ser
ENST00000389138.7:n.1071G>C
NM_005236.2:c.1794G>C , LRG_463t1:c.1794G>C	NP_005227.1:p.Arg598Ser
XM_011522424.1:c.1932G>C	XP_011520726.1:p.Arg644Ser
XM_011522425.1:c.1251G>C	XP_011520727.1:p.Arg417Ser
XM_011522426.1:c.1005G>C	XP_011520728.1:p.Arg335Ser
XM_011522427.1:c.444G>C	XP_011520729.1:p.Arg148Ser
XR_932805.1:n.1953G>C
XM_011522424.3:c.1932G>C	XP_011520726.1:p.Arg644Ser
XM_017023043.2:c.1005G>C	XP_016878532.1:p.Arg335Ser
NM_005236.3:c.1794G>C MANE Select	NP_005227.1:p.Arg598Ser