Canonical Allele Identifier: CA16043849

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 374688
• ClinVar RCV Id: RCV000416265
• dbSNP Id: rs1057519202
• gnomAD v4: 16-13935421-A-G
• MyVariant Identifiers: chr16:g.14029278A>G (hg19) ; chr16:g.13935421A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935421A>G , CM000678.2:g.13935421A>G	GRCh38
NC_000016.9:g.14029278A>G , CM000678.1:g.14029278A>G	GRCh37
NC_000016.8:g.13936779A>G	NCBI36
NG_011442.1:g.20265A>G , LRG_463:g.20265A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1567A>G
ENST00000682617.1:c.1627A>G	ENSP00000507912.1:p.Met543Val
ENST00000682826.1:c.*803A>G	ENSP00000507274.1:n.*803A>G
ENST00000682909.1:n.3529A>G
ENST00000683277.1:n.3134A>G
ENST00000683407.1:n.1497A>G
ENST00000683962.1:c.*1183A>G	ENSP00000506854.1:n.*1183A>G
ENST00000311895.8:c.1489A>G MANE Select	ENSP00000310520.7:p.Met497Val
ENST00000311895.7:c.1489A>G	ENSP00000310520.7:p.Met497Val
ENST00000389138.7:n.766A>G
NM_005236.2:c.1489A>G , LRG_463t1:c.1489A>G	NP_005227.1:p.Met497Val
XM_011522424.1:c.1627A>G	XP_011520726.1:p.Met543Val
XM_011522425.1:c.946A>G	XP_011520727.1:p.Met316Val
XM_011522426.1:c.700A>G	XP_011520728.1:p.Met234Val
XM_011522427.1:c.139A>G	XP_011520729.1:p.Met47Val
XR_932805.1:n.1648A>G
XM_011522424.3:c.1627A>G	XP_011520726.1:p.Met543Val
XM_017023043.2:c.700A>G	XP_016878532.1:p.Met234Val
NM_005236.3:c.1489A>G MANE Select	NP_005227.1:p.Met497Val