Canonical Allele Identifier: CA394812659

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 998305
• ClinVar RCV Id: RCV001294106
• dbSNP Id: rs147105770
• gnomAD v2: 16-14029554-C-G
• gnomAD v3: 16-13935697-C-G
• gnomAD v4: 16-13935697-C-G
• MyVariant Identifiers: chr16:g.14029554C>G (hg19) ; chr16:g.13935697C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935697C>G , CM000678.2:g.13935697C>G	GRCh38
NC_000016.9:g.14029554C>G , CM000678.1:g.14029554C>G	GRCh37
NC_000016.8:g.13937055C>G	NCBI36
NG_011442.1:g.20541C>G , LRG_463:g.20541C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1843C>G
ENST00000682617.1:c.1903C>G	ENSP00000507912.1:p.Arg635Gly
ENST00000682826.1:c.*1079C>G	ENSP00000507274.1:n.*1079C>G
ENST00000682909.1:n.3805C>G
ENST00000683277.1:n.3410C>G
ENST00000683407.1:n.1773C>G
ENST00000683962.1:c.*1459C>G	ENSP00000506854.1:n.*1459C>G
ENST00000311895.8:c.1765C>G MANE Select	ENSP00000310520.7:p.Arg589Gly
ENST00000311895.7:c.1765C>G	ENSP00000310520.7:p.Arg589Gly
ENST00000389138.7:n.1042C>G
NM_005236.2:c.1765C>G , LRG_463t1:c.1765C>G	NP_005227.1:p.Arg589Gly
XM_011522424.1:c.1903C>G	XP_011520726.1:p.Arg635Gly
XM_011522425.1:c.1222C>G	XP_011520727.1:p.Arg408Gly
XM_011522426.1:c.976C>G	XP_011520728.1:p.Arg326Gly
XM_011522427.1:c.415C>G	XP_011520729.1:p.Arg139Gly
XR_932805.1:n.1924C>G
XM_011522424.3:c.1903C>G	XP_011520726.1:p.Arg635Gly
XM_017023043.2:c.976C>G	XP_016878532.1:p.Arg326Gly
NM_005236.3:c.1765C>G MANE Select	NP_005227.1:p.Arg589Gly