Canonical Allele Identifier: CA7910663

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 435079
• ClinVar RCV Id: RCV000499736 ; RCV000530646 ; RCV002258935
• dbSNP Id: rs565249189
• ExAC: 16:14041499 A / G
• gnomAD v2: 16-14041499-A-G
• gnomAD v3: 16-13947642-A-G
• gnomAD v4: 16-13947642-A-G
• MyVariant Identifiers: chr16:g.14041499A>G (hg19) ; chr16:g.13947642A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947642A>G , CM000678.2:g.13947642A>G	GRCh38
NC_000016.9:g.14041499A>G , CM000678.1:g.14041499A>G	GRCh37
NC_000016.8:g.13949000A>G	NCBI36
NG_011442.1:g.32486A>G , LRG_463:g.32486A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2184A>G	ENSP00000507912.1:p.Gln728=
ENST00000683962.1:c.*1740A>G	ENSP00000506854.1:n.*1740A>G
ENST00000311895.8:c.2046A>G MANE Select	ENSP00000310520.7:p.Gln682=
ENST00000311895.7:c.2046A>G	ENSP00000310520.7:p.Gln682=
ENST00000389138.7:n.1323A>G
ENST00000462862.1:c.359A>G	ENSP00000461322.1:n.359A>G
NM_005236.2:c.2046A>G , LRG_463t1:c.2046A>G	NP_005227.1:p.Gln682=
XM_011522424.1:c.2184A>G	XP_011520726.1:p.Gln728=
XM_011522425.1:c.1503A>G	XP_011520727.1:p.Gln501=
XM_011522426.1:c.1257A>G	XP_011520728.1:p.Gln419=
XM_011522427.1:c.696A>G	XP_011520729.1:p.Gln232=
XR_932805.1:n.2205A>G
XM_011522424.3:c.2184A>G	XP_011520726.1:p.Gln728=
XM_017023043.2:c.1257A>G	XP_016878532.1:p.Gln419=
NM_005236.3:c.2046A>G MANE Select	NP_005227.1:p.Gln682=