Canonical Allele Identifier: CA493689546

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935658-A-C
• MyVariant Identifiers: chr16:g.14029515A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935658A>C , CM000678.2:g.13935658A>C	GRCh38
NC_000016.9:g.14029515A>C , CM000678.1:g.14029515A>C	GRCh37
NC_000016.8:g.13937016A>C	NCBI36
NG_011442.1:g.20502A>C , LRG_463:g.20502A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1804A>C
ENST00000682617.1:c.1864A>C	ENSP00000507912.1:p.Arg622=
ENST00000682826.1:c.*1040A>C	ENSP00000507274.1:n.*1040A>C
ENST00000682909.1:n.3766A>C
ENST00000683277.1:n.3371A>C
ENST00000683407.1:n.1734A>C
ENST00000683962.1:c.*1420A>C	ENSP00000506854.1:n.*1420A>C
ENST00000311895.8:c.1726A>C MANE Select	ENSP00000310520.7:p.Arg576=
ENST00000311895.7:c.1726A>C	ENSP00000310520.7:p.Arg576=
ENST00000389138.7:n.1003A>C
NM_005236.2:c.1726A>C , LRG_463t1:c.1726A>C	NP_005227.1:p.Arg576=
XM_011522424.1:c.1864A>C	XP_011520726.1:p.Arg622=
XM_011522425.1:c.1183A>C	XP_011520727.1:p.Arg395=
XM_011522426.1:c.937A>C	XP_011520728.1:p.Arg313=
XM_011522427.1:c.376A>C	XP_011520729.1:p.Arg126=
XR_932805.1:n.1885A>C
XM_011522424.3:c.1864A>C	XP_011520726.1:p.Arg622=
XM_017023043.2:c.937A>C	XP_016878532.1:p.Arg313=
NM_005236.3:c.1726A>C MANE Select	NP_005227.1:p.Arg576=