Canonical Allele Identifier: CA394812402

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141607961
• MyVariant Identifiers: chr16:g.14029474A>T (hg19) ; chr16:g.13935617A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935617A>T , CM000678.2:g.13935617A>T	GRCh38
NC_000016.9:g.14029474A>T , CM000678.1:g.14029474A>T	GRCh37
NC_000016.8:g.13936975A>T	NCBI36
NG_011442.1:g.20461A>T , LRG_463:g.20461A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1763A>T
ENST00000682617.1:c.1823A>T	ENSP00000507912.1:p.Asp608Val
ENST00000682826.1:c.*999A>T	ENSP00000507274.1:n.*999A>T
ENST00000682909.1:n.3725A>T
ENST00000683277.1:n.3330A>T
ENST00000683407.1:n.1693A>T
ENST00000683962.1:c.*1379A>T	ENSP00000506854.1:n.*1379A>T
ENST00000311895.8:c.1685A>T MANE Select	ENSP00000310520.7:p.Asp562Val
ENST00000311895.7:c.1685A>T	ENSP00000310520.7:p.Asp562Val
ENST00000389138.7:n.962A>T
NM_005236.2:c.1685A>T , LRG_463t1:c.1685A>T	NP_005227.1:p.Asp562Val
XM_011522424.1:c.1823A>T	XP_011520726.1:p.Asp608Val
XM_011522425.1:c.1142A>T	XP_011520727.1:p.Asp381Val
XM_011522426.1:c.896A>T	XP_011520728.1:p.Asp299Val
XM_011522427.1:c.335A>T	XP_011520729.1:p.Asp112Val
XR_932805.1:n.1844A>T
XM_011522424.3:c.1823A>T	XP_011520726.1:p.Asp608Val
XM_017023043.2:c.896A>T	XP_016878532.1:p.Asp299Val
NM_005236.3:c.1685A>T MANE Select	NP_005227.1:p.Asp562Val