Canonical Allele Identifier: CA394812529

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029519A>G (hg19) ; chr16:g.13935662A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935662A>G , CM000678.2:g.13935662A>G	GRCh38
NC_000016.9:g.14029519A>G , CM000678.1:g.14029519A>G	GRCh37
NC_000016.8:g.13937020A>G	NCBI36
NG_011442.1:g.20506A>G , LRG_463:g.20506A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1808A>G
ENST00000682617.1:c.1868A>G	ENSP00000507912.1:p.Tyr623Cys
ENST00000682826.1:c.*1044A>G	ENSP00000507274.1:n.*1044A>G
ENST00000682909.1:n.3770A>G
ENST00000683277.1:n.3375A>G
ENST00000683407.1:n.1738A>G
ENST00000683962.1:c.*1424A>G	ENSP00000506854.1:n.*1424A>G
ENST00000311895.8:c.1730A>G MANE Select	ENSP00000310520.7:p.Tyr577Cys
ENST00000311895.7:c.1730A>G	ENSP00000310520.7:p.Tyr577Cys
ENST00000389138.7:n.1007A>G
NM_005236.2:c.1730A>G , LRG_463t1:c.1730A>G	NP_005227.1:p.Tyr577Cys
XM_011522424.1:c.1868A>G	XP_011520726.1:p.Tyr623Cys
XM_011522425.1:c.1187A>G	XP_011520727.1:p.Tyr396Cys
XM_011522426.1:c.941A>G	XP_011520728.1:p.Tyr314Cys
XM_011522427.1:c.380A>G	XP_011520729.1:p.Tyr127Cys
XR_932805.1:n.1889A>G
XM_011522424.3:c.1868A>G	XP_011520726.1:p.Tyr623Cys
XM_017023043.2:c.941A>G	XP_016878532.1:p.Tyr314Cys
NM_005236.3:c.1730A>G MANE Select	NP_005227.1:p.Tyr577Cys