Canonical Allele Identifier: CA394811754

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029380C>G (hg19) ; chr16:g.13935523C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935523C>G , CM000678.2:g.13935523C>G	GRCh38
NC_000016.9:g.14029380C>G , CM000678.1:g.14029380C>G	GRCh37
NC_000016.8:g.13936881C>G	NCBI36
NG_011442.1:g.20367C>G , LRG_463:g.20367C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1669C>G
ENST00000682617.1:c.1729C>G	ENSP00000507912.1:p.His577Asp
ENST00000682826.1:c.*905C>G	ENSP00000507274.1:n.*905C>G
ENST00000682909.1:n.3631C>G
ENST00000683277.1:n.3236C>G
ENST00000683407.1:n.1599C>G
ENST00000683962.1:c.*1285C>G	ENSP00000506854.1:n.*1285C>G
ENST00000311895.8:c.1591C>G MANE Select	ENSP00000310520.7:p.His531Asp
ENST00000311895.7:c.1591C>G	ENSP00000310520.7:p.His531Asp
ENST00000389138.7:n.868C>G
NM_005236.2:c.1591C>G , LRG_463t1:c.1591C>G	NP_005227.1:p.His531Asp
XM_011522424.1:c.1729C>G	XP_011520726.1:p.His577Asp
XM_011522425.1:c.1048C>G	XP_011520727.1:p.His350Asp
XM_011522426.1:c.802C>G	XP_011520728.1:p.His268Asp
XM_011522427.1:c.241C>G	XP_011520729.1:p.His81Asp
XR_932805.1:n.1750C>G
XM_011522424.3:c.1729C>G	XP_011520726.1:p.His577Asp
XM_017023043.2:c.802C>G	XP_016878532.1:p.His268Asp
NM_005236.3:c.1591C>G MANE Select	NP_005227.1:p.His531Asp