Canonical Allele Identifier: CA394811585

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029357A>T (hg19) ; chr16:g.13935500A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935500A>T , CM000678.2:g.13935500A>T	GRCh38
NC_000016.9:g.14029357A>T , CM000678.1:g.14029357A>T	GRCh37
NC_000016.8:g.13936858A>T	NCBI36
NG_011442.1:g.20344A>T , LRG_463:g.20344A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1646A>T
ENST00000682617.1:c.1706A>T	ENSP00000507912.1:p.Glu569Val
ENST00000682826.1:c.*882A>T	ENSP00000507274.1:n.*882A>T
ENST00000682909.1:n.3608A>T
ENST00000683277.1:n.3213A>T
ENST00000683407.1:n.1576A>T
ENST00000683962.1:c.*1262A>T	ENSP00000506854.1:n.*1262A>T
ENST00000311895.8:c.1568A>T MANE Select	ENSP00000310520.7:p.Glu523Val
ENST00000311895.7:c.1568A>T	ENSP00000310520.7:p.Glu523Val
ENST00000389138.7:n.845A>T
NM_005236.2:c.1568A>T , LRG_463t1:c.1568A>T	NP_005227.1:p.Glu523Val
XM_011522424.1:c.1706A>T	XP_011520726.1:p.Glu569Val
XM_011522425.1:c.1025A>T	XP_011520727.1:p.Glu342Val
XM_011522426.1:c.779A>T	XP_011520728.1:p.Glu260Val
XM_011522427.1:c.218A>T	XP_011520729.1:p.Glu73Val
XR_932805.1:n.1727A>T
XM_011522424.3:c.1706A>T	XP_011520726.1:p.Glu569Val
XM_017023043.2:c.779A>T	XP_016878532.1:p.Glu260Val
NM_005236.3:c.1568A>T MANE Select	NP_005227.1:p.Glu523Val