Canonical Allele Identifier: CA394811840

Gene: ERCC4

Linked Data

• dbSNP Id: rs2040064415
• MyVariant Identifiers: chr16:g.14029391T>G (hg19) ; chr16:g.13935534T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935534T>G , CM000678.2:g.13935534T>G	GRCh38
NC_000016.9:g.14029391T>G , CM000678.1:g.14029391T>G	GRCh37
NC_000016.8:g.13936892T>G	NCBI36
NG_011442.1:g.20378T>G , LRG_463:g.20378T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1680T>G
ENST00000682617.1:c.1740T>G	ENSP00000507912.1:p.Phe580Leu
ENST00000682826.1:c.*916T>G	ENSP00000507274.1:n.*916T>G
ENST00000682909.1:n.3642T>G
ENST00000683277.1:n.3247T>G
ENST00000683407.1:n.1610T>G
ENST00000683962.1:c.*1296T>G	ENSP00000506854.1:n.*1296T>G
ENST00000311895.8:c.1602T>G MANE Select	ENSP00000310520.7:p.Phe534Leu
ENST00000311895.7:c.1602T>G	ENSP00000310520.7:p.Phe534Leu
ENST00000389138.7:n.879T>G
NM_005236.2:c.1602T>G , LRG_463t1:c.1602T>G	NP_005227.1:p.Phe534Leu
XM_011522424.1:c.1740T>G	XP_011520726.1:p.Phe580Leu
XM_011522425.1:c.1059T>G	XP_011520727.1:p.Phe353Leu
XM_011522426.1:c.813T>G	XP_011520728.1:p.Phe271Leu
XM_011522427.1:c.252T>G	XP_011520729.1:p.Phe84Leu
XR_932805.1:n.1761T>G
XM_011522424.3:c.1740T>G	XP_011520726.1:p.Phe580Leu
XM_017023043.2:c.813T>G	XP_016878532.1:p.Phe271Leu
NM_005236.3:c.1602T>G MANE Select	NP_005227.1:p.Phe534Leu