Canonical Allele Identifier: CA394824788

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2924233
• ClinVar RCV Id: RCV003785983
• dbSNP Id: rs2032563240
• gnomAD v4: 16-13948252-A-G
• COSMIC: COSM6216869
• MyVariant Identifiers: chr16:g.14042109A>G (hg19) ; chr16:g.13948252A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948252A>G , CM000678.2:g.13948252A>G	GRCh38
NC_000016.9:g.14042109A>G , CM000678.1:g.14042109A>G	GRCh37
NC_000016.8:g.13949610A>G	NCBI36
NG_011442.1:g.33096A>G , LRG_463:g.33096A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2794A>G	ENSP00000507912.1:p.Ser932Gly
ENST00000683962.1:c.*2350A>G	ENSP00000506854.1:n.*2350A>G
ENST00000311895.8:c.2656A>G MANE Select	ENSP00000310520.7:p.Ser886Gly
ENST00000311895.7:c.2656A>G	ENSP00000310520.7:p.Ser886Gly
ENST00000389138.7:n.1933A>G
NM_005236.2:c.2656A>G , LRG_463t1:c.2656A>G	NP_005227.1:p.Ser886Gly
XM_011522424.1:c.2794A>G	XP_011520726.1:p.Ser932Gly
XM_011522425.1:c.2113A>G	XP_011520727.1:p.Ser705Gly
XM_011522426.1:c.1867A>G	XP_011520728.1:p.Ser623Gly
XM_011522427.1:c.1306A>G	XP_011520729.1:p.Ser436Gly
XR_932805.1:n.2815A>G
XM_011522424.3:c.2794A>G	XP_011520726.1:p.Ser932Gly
XM_017023043.2:c.1867A>G	XP_016878532.1:p.Ser623Gly
NM_005236.3:c.2656A>G MANE Select	NP_005227.1:p.Ser886Gly