Canonical Allele Identifier: CA394818031

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14038662G>C (hg19) ; chr16:g.13944805G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944805G>C , CM000678.2:g.13944805G>C	GRCh38
NC_000016.9:g.14038662G>C , CM000678.1:g.14038662G>C	GRCh37
NC_000016.8:g.13946163G>C	NCBI36
NG_011442.1:g.29649G>C , LRG_463:g.29649G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2125G>C	ENSP00000507912.1:p.Ala709Pro
ENST00000683962.1:c.*1681G>C	ENSP00000506854.1:n.*1681G>C
ENST00000311895.8:c.1987G>C MANE Select	ENSP00000310520.7:p.Ala663Pro
ENST00000311895.7:c.1987G>C	ENSP00000310520.7:p.Ala663Pro
ENST00000389138.7:n.1264G>C
ENST00000462862.1:c.300G>C	ENSP00000461322.1:n.300G>C
NM_005236.2:c.1987G>C , LRG_463t1:c.1987G>C	NP_005227.1:p.Ala663Pro
XM_011522424.1:c.2125G>C	XP_011520726.1:p.Ala709Pro
XM_011522425.1:c.1444G>C	XP_011520727.1:p.Ala482Pro
XM_011522426.1:c.1198G>C	XP_011520728.1:p.Ala400Pro
XM_011522427.1:c.637G>C	XP_011520729.1:p.Ala213Pro
XR_932805.1:n.2146G>C
XM_011522424.3:c.2125G>C	XP_011520726.1:p.Ala709Pro
XM_017023043.2:c.1198G>C	XP_016878532.1:p.Ala400Pro
NM_005236.3:c.1987G>C MANE Select	NP_005227.1:p.Ala663Pro