Canonical Allele Identifier: CA278485807

Gene: ERCC4

Linked Data

• dbSNP Id: rs773636525
• gnomAD v2: 16-14042040-T-G
• gnomAD v4: 16-13948183-T-G
• MyVariant Identifiers: chr16:g.14042040T>G (hg19) ; chr16:g.13948183T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948183T>G , CM000678.2:g.13948183T>G	GRCh38
NC_000016.9:g.14042040T>G , CM000678.1:g.14042040T>G	GRCh37
NC_000016.8:g.13949541T>G	NCBI36
NG_011442.1:g.33027T>G , LRG_463:g.33027T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2725T>G	ENSP00000507912.1:p.Cys909Gly
ENST00000683962.1:c.*2281T>G	ENSP00000506854.1:n.*2281T>G
ENST00000311895.8:c.2587T>G MANE Select	ENSP00000310520.7:p.Cys863Gly
ENST00000311895.7:c.2587T>G	ENSP00000310520.7:p.Cys863Gly
ENST00000389138.7:n.1864T>G
NM_005236.2:c.2587T>G , LRG_463t1:c.2587T>G	NP_005227.1:p.Cys863Gly
XM_011522424.1:c.2725T>G	XP_011520726.1:p.Cys909Gly
XM_011522425.1:c.2044T>G	XP_011520727.1:p.Cys682Gly
XM_011522426.1:c.1798T>G	XP_011520728.1:p.Cys600Gly
XM_011522427.1:c.1237T>G	XP_011520729.1:p.Cys413Gly
XR_932805.1:n.2746T>G
XM_011522424.3:c.2725T>G	XP_011520726.1:p.Cys909Gly
XM_017023043.2:c.1798T>G	XP_016878532.1:p.Cys600Gly
NM_005236.3:c.2587T>G MANE Select	NP_005227.1:p.Cys863Gly