Canonical Allele Identifier: CA394811149

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029279T>G (hg19) ; chr16:g.13935422T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935422T>G , CM000678.2:g.13935422T>G	GRCh38
NC_000016.9:g.14029279T>G , CM000678.1:g.14029279T>G	GRCh37
NC_000016.8:g.13936780T>G	NCBI36
NG_011442.1:g.20266T>G , LRG_463:g.20266T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1568T>G
ENST00000682617.1:c.1628T>G	ENSP00000507912.1:p.Met543Arg
ENST00000682826.1:c.*804T>G	ENSP00000507274.1:n.*804T>G
ENST00000682909.1:n.3530T>G
ENST00000683277.1:n.3135T>G
ENST00000683407.1:n.1498T>G
ENST00000683962.1:c.*1184T>G	ENSP00000506854.1:n.*1184T>G
ENST00000311895.8:c.1490T>G MANE Select	ENSP00000310520.7:p.Met497Arg
ENST00000311895.7:c.1490T>G	ENSP00000310520.7:p.Met497Arg
ENST00000389138.7:n.767T>G
NM_005236.2:c.1490T>G , LRG_463t1:c.1490T>G	NP_005227.1:p.Met497Arg
XM_011522424.1:c.1628T>G	XP_011520726.1:p.Met543Arg
XM_011522425.1:c.947T>G	XP_011520727.1:p.Met316Arg
XM_011522426.1:c.701T>G	XP_011520728.1:p.Met234Arg
XM_011522427.1:c.140T>G	XP_011520729.1:p.Met47Arg
XR_932805.1:n.1649T>G
XM_011522424.3:c.1628T>G	XP_011520726.1:p.Met543Arg
XM_017023043.2:c.701T>G	XP_016878532.1:p.Met234Arg
NM_005236.3:c.1490T>G MANE Select	NP_005227.1:p.Met497Arg