Canonical Allele Identifier: CA394812657

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029552T>G (hg19) ; chr16:g.13935695T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935695T>G , CM000678.2:g.13935695T>G	GRCh38
NC_000016.9:g.14029552T>G , CM000678.1:g.14029552T>G	GRCh37
NC_000016.8:g.13937053T>G	NCBI36
NG_011442.1:g.20539T>G , LRG_463:g.20539T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1841T>G
ENST00000682617.1:c.1901T>G	ENSP00000507912.1:p.Val634Gly
ENST00000682826.1:c.*1077T>G	ENSP00000507274.1:n.*1077T>G
ENST00000682909.1:n.3803T>G
ENST00000683277.1:n.3408T>G
ENST00000683407.1:n.1771T>G
ENST00000683962.1:c.*1457T>G	ENSP00000506854.1:n.*1457T>G
ENST00000311895.8:c.1763T>G MANE Select	ENSP00000310520.7:p.Val588Gly
ENST00000311895.7:c.1763T>G	ENSP00000310520.7:p.Val588Gly
ENST00000389138.7:n.1040T>G
NM_005236.2:c.1763T>G , LRG_463t1:c.1763T>G	NP_005227.1:p.Val588Gly
XM_011522424.1:c.1901T>G	XP_011520726.1:p.Val634Gly
XM_011522425.1:c.1220T>G	XP_011520727.1:p.Val407Gly
XM_011522426.1:c.974T>G	XP_011520728.1:p.Val325Gly
XM_011522427.1:c.413T>G	XP_011520729.1:p.Val138Gly
XR_932805.1:n.1922T>G
XM_011522424.3:c.1901T>G	XP_011520726.1:p.Val634Gly
XM_017023043.2:c.974T>G	XP_016878532.1:p.Val325Gly
NM_005236.3:c.1763T>G MANE Select	NP_005227.1:p.Val588Gly