Canonical Allele Identifier: CA394811608

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029361C>G (hg19) ; chr16:g.13935504C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935504C>G , CM000678.2:g.13935504C>G	GRCh38
NC_000016.9:g.14029361C>G , CM000678.1:g.14029361C>G	GRCh37
NC_000016.8:g.13936862C>G	NCBI36
NG_011442.1:g.20348C>G , LRG_463:g.20348C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1650C>G
ENST00000682617.1:c.1710C>G	ENSP00000507912.1:p.Ser570Arg
ENST00000682826.1:c.*886C>G	ENSP00000507274.1:n.*886C>G
ENST00000682909.1:n.3612C>G
ENST00000683277.1:n.3217C>G
ENST00000683407.1:n.1580C>G
ENST00000683962.1:c.*1266C>G	ENSP00000506854.1:n.*1266C>G
ENST00000311895.8:c.1572C>G MANE Select	ENSP00000310520.7:p.Ser524Arg
ENST00000311895.7:c.1572C>G	ENSP00000310520.7:p.Ser524Arg
ENST00000389138.7:n.849C>G
NM_005236.2:c.1572C>G , LRG_463t1:c.1572C>G	NP_005227.1:p.Ser524Arg
XM_011522424.1:c.1710C>G	XP_011520726.1:p.Ser570Arg
XM_011522425.1:c.1029C>G	XP_011520727.1:p.Ser343Arg
XM_011522426.1:c.783C>G	XP_011520728.1:p.Ser261Arg
XM_011522427.1:c.222C>G	XP_011520729.1:p.Ser74Arg
XR_932805.1:n.1731C>G
XM_011522424.3:c.1710C>G	XP_011520726.1:p.Ser570Arg
XM_017023043.2:c.783C>G	XP_016878532.1:p.Ser261Arg
NM_005236.3:c.1572C>G MANE Select	NP_005227.1:p.Ser524Arg