Canonical Allele Identifier: CA394810682

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029225C>G (hg19) ; chr16:g.13935368C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935368C>G , CM000678.2:g.13935368C>G	GRCh38
NC_000016.9:g.14029225C>G , CM000678.1:g.14029225C>G	GRCh37
NC_000016.8:g.13936726C>G	NCBI36
NG_011442.1:g.20212C>G , LRG_463:g.20212C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1514C>G
ENST00000682617.1:c.1574C>G	ENSP00000507912.1:p.Ser525Cys
ENST00000682826.1:c.*750C>G	ENSP00000507274.1:n.*750C>G
ENST00000682909.1:n.3476C>G
ENST00000683277.1:n.3081C>G
ENST00000683407.1:n.1444C>G
ENST00000683962.1:c.*1130C>G	ENSP00000506854.1:n.*1130C>G
ENST00000311895.8:c.1436C>G MANE Select	ENSP00000310520.7:p.Ser479Cys
ENST00000311895.7:c.1436C>G	ENSP00000310520.7:p.Ser479Cys
ENST00000389138.7:n.713C>G
ENST00000573018.1:n.504C>G
NM_005236.2:c.1436C>G , LRG_463t1:c.1436C>G	NP_005227.1:p.Ser479Cys
XM_011522424.1:c.1574C>G	XP_011520726.1:p.Ser525Cys
XM_011522425.1:c.893C>G	XP_011520727.1:p.Ser298Cys
XM_011522426.1:c.647C>G	XP_011520728.1:p.Ser216Cys
XM_011522427.1:c.86C>G	XP_011520729.1:p.Ser29Cys
XR_932805.1:n.1595C>G
XM_011522424.3:c.1574C>G	XP_011520726.1:p.Ser525Cys
XM_017023043.2:c.647C>G	XP_016878532.1:p.Ser216Cys
NM_005236.3:c.1436C>G MANE Select	NP_005227.1:p.Ser479Cys