Canonical Allele Identifier: CA493689529

Gene: ERCC4

Linked Data

• dbSNP Id: rs758658934
• gnomAD v4: 16-13935634-A-C
• MyVariant Identifiers: chr16:g.14029491A>C (hg19) ; chr16:g.13935634A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935634A>C , CM000678.2:g.13935634A>C	GRCh38
NC_000016.9:g.14029491A>C , CM000678.1:g.14029491A>C	GRCh37
NC_000016.8:g.13936992A>C	NCBI36
NG_011442.1:g.20478A>C , LRG_463:g.20478A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1780A>C
ENST00000682617.1:c.1840A>C	ENSP00000507912.1:p.Arg614=
ENST00000682826.1:c.*1016A>C	ENSP00000507274.1:n.*1016A>C
ENST00000682909.1:n.3742A>C
ENST00000683277.1:n.3347A>C
ENST00000683407.1:n.1710A>C
ENST00000683962.1:c.*1396A>C	ENSP00000506854.1:n.*1396A>C
ENST00000311895.8:c.1702A>C MANE Select	ENSP00000310520.7:p.Arg568=
ENST00000311895.7:c.1702A>C	ENSP00000310520.7:p.Arg568=
ENST00000389138.7:n.979A>C
NM_005236.2:c.1702A>C , LRG_463t1:c.1702A>C	NP_005227.1:p.Arg568=
XM_011522424.1:c.1840A>C	XP_011520726.1:p.Arg614=
XM_011522425.1:c.1159A>C	XP_011520727.1:p.Arg387=
XM_011522426.1:c.913A>C	XP_011520728.1:p.Arg305=
XM_011522427.1:c.352A>C	XP_011520729.1:p.Arg118=
XR_932805.1:n.1861A>C
XM_011522424.3:c.1840A>C	XP_011520726.1:p.Arg614=
XM_017023043.2:c.913A>C	XP_016878532.1:p.Arg305=
NM_005236.3:c.1702A>C MANE Select	NP_005227.1:p.Arg568=