Canonical Allele Identifier: CA158915

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 134151
• ClinVar RCV Id: RCV000120824 ; RCV001854623 ; RCV003474727
• dbSNP Id: rs376216413
• gnomAD v2: 16-14029446-A-G
• gnomAD v4: 16-13935589-A-G
• MyVariant Identifiers: chr16:g.14029446A>G (hg19) ; chr16:g.13935589A>G (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935589A>G , CM000678.2:g.13935589A>G	GRCh38
NC_000016.9:g.14029446A>G , CM000678.1:g.14029446A>G	GRCh37
NC_000016.8:g.13936947A>G	NCBI36
NG_011442.1:g.20433A>G , LRG_463:g.20433A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1735A>G
ENST00000682617.1:c.1795A>G	ENSP00000507912.1:p.Ile599Val
ENST00000682826.1:c.*971A>G	ENSP00000507274.1:n.*971A>G
ENST00000682909.1:n.3697A>G
ENST00000683277.1:n.3302A>G
ENST00000683407.1:n.1665A>G
ENST00000683962.1:c.*1351A>G	ENSP00000506854.1:n.*1351A>G
ENST00000311895.8:c.1657A>G MANE Select	ENSP00000310520.7:p.Ile553Val
ENST00000311895.7:c.1657A>G	ENSP00000310520.7:p.Ile553Val
ENST00000389138.7:n.934A>G
NM_005236.2:c.1657A>G , LRG_463t1:c.1657A>G	NP_005227.1:p.Ile553Val
XM_011522424.1:c.1795A>G	XP_011520726.1:p.Ile599Val
XM_011522425.1:c.1114A>G	XP_011520727.1:p.Ile372Val
XM_011522426.1:c.868A>G	XP_011520728.1:p.Ile290Val
XM_011522427.1:c.307A>G	XP_011520729.1:p.Ile103Val
XR_932805.1:n.1816A>G
XM_011522424.3:c.1795A>G	XP_011520726.1:p.Ile599Val
XM_017023043.2:c.868A>G	XP_016878532.1:p.Ile290Val
NM_005236.3:c.1657A>G MANE Select	NP_005227.1:p.Ile553Val