Canonical Allele Identifier: CA7910520

Gene: ERCC4

Linked Data

• dbSNP Id: rs780225844
• ExAC: 16:14029493 G / T
• gnomAD v2: 16-14029493-G-T
• gnomAD v4: 16-13935636-G-T
• MyVariant Identifiers: chr16:g.14029493G>T (hg19) ; chr16:g.13935636G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935636G>T , CM000678.2:g.13935636G>T	GRCh38
NC_000016.9:g.14029493G>T , CM000678.1:g.14029493G>T	GRCh37
NC_000016.8:g.13936994G>T	NCBI36
NG_011442.1:g.20480G>T , LRG_463:g.20480G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1782G>T
ENST00000682617.1:c.1842G>T	ENSP00000507912.1:p.Arg614Ser
ENST00000682826.1:c.*1018G>T	ENSP00000507274.1:n.*1018G>T
ENST00000682909.1:n.3744G>T
ENST00000683277.1:n.3349G>T
ENST00000683407.1:n.1712G>T
ENST00000683962.1:c.*1398G>T	ENSP00000506854.1:n.*1398G>T
ENST00000311895.8:c.1704G>T MANE Select	ENSP00000310520.7:p.Arg568Ser
ENST00000311895.7:c.1704G>T	ENSP00000310520.7:p.Arg568Ser
ENST00000389138.7:n.981G>T
NM_005236.2:c.1704G>T , LRG_463t1:c.1704G>T	NP_005227.1:p.Arg568Ser
XM_011522424.1:c.1842G>T	XP_011520726.1:p.Arg614Ser
XM_011522425.1:c.1161G>T	XP_011520727.1:p.Arg387Ser
XM_011522426.1:c.915G>T	XP_011520728.1:p.Arg305Ser
XM_011522427.1:c.354G>T	XP_011520729.1:p.Arg118Ser
XR_932805.1:n.1863G>T
XM_011522424.3:c.1842G>T	XP_011520726.1:p.Arg614Ser
XM_017023043.2:c.915G>T	XP_016878532.1:p.Arg305Ser
NM_005236.3:c.1704G>T MANE Select	NP_005227.1:p.Arg568Ser