Canonical Allele Identifier: CA493690107

Gene: ERCC4

Linked Data

• dbSNP Id: rs1417783312
• MyVariant Identifiers: chr16:g.14041931G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948074G>C , CM000678.2:g.13948074G>C	GRCh38
NC_000016.9:g.14041931G>C , CM000678.1:g.14041931G>C	GRCh37
NC_000016.8:g.13949432G>C	NCBI36
NG_011442.1:g.32918G>C , LRG_463:g.32918G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2616G>C	ENSP00000507912.1:p.Ala872=
ENST00000683962.1:c.*2172G>C	ENSP00000506854.1:n.*2172G>C
ENST00000311895.8:c.2478G>C MANE Select	ENSP00000310520.7:p.Ala826=
ENST00000311895.7:c.2478G>C	ENSP00000310520.7:p.Ala826=
ENST00000389138.7:n.1755G>C
NM_005236.2:c.2478G>C , LRG_463t1:c.2478G>C	NP_005227.1:p.Ala826=
XM_011522424.1:c.2616G>C	XP_011520726.1:p.Ala872=
XM_011522425.1:c.1935G>C	XP_011520727.1:p.Ala645=
XM_011522426.1:c.1689G>C	XP_011520728.1:p.Ala563=
XM_011522427.1:c.1128G>C	XP_011520729.1:p.Ala376=
XR_932805.1:n.2637G>C
XM_011522424.3:c.2616G>C	XP_011520726.1:p.Ala872=
XM_017023043.2:c.1689G>C	XP_016878532.1:p.Ala563=
NM_005236.3:c.2478G>C MANE Select	NP_005227.1:p.Ala826=