Canonical Allele Identifier: CA394812066

Gene: ERCC4

Linked Data

• dbSNP Id: rs1296627332
• gnomAD v2: 16-14029425-A-G
• gnomAD v4: 16-13935568-A-G
• MyVariant Identifiers: chr16:g.14029425A>G (hg19) ; chr16:g.13935568A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935568A>G , CM000678.2:g.13935568A>G	GRCh38
NC_000016.9:g.14029425A>G , CM000678.1:g.14029425A>G	GRCh37
NC_000016.8:g.13936926A>G	NCBI36
NG_011442.1:g.20412A>G , LRG_463:g.20412A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1714A>G
ENST00000682617.1:c.1774A>G	ENSP00000507912.1:p.Ile592Val
ENST00000682826.1:c.*950A>G	ENSP00000507274.1:n.*950A>G
ENST00000682909.1:n.3676A>G
ENST00000683277.1:n.3281A>G
ENST00000683407.1:n.1644A>G
ENST00000683962.1:c.*1330A>G	ENSP00000506854.1:n.*1330A>G
ENST00000311895.8:c.1636A>G MANE Select	ENSP00000310520.7:p.Ile546Val
ENST00000311895.7:c.1636A>G	ENSP00000310520.7:p.Ile546Val
ENST00000389138.7:n.913A>G
NM_005236.2:c.1636A>G , LRG_463t1:c.1636A>G	NP_005227.1:p.Ile546Val
XM_011522424.1:c.1774A>G	XP_011520726.1:p.Ile592Val
XM_011522425.1:c.1093A>G	XP_011520727.1:p.Ile365Val
XM_011522426.1:c.847A>G	XP_011520728.1:p.Ile283Val
XM_011522427.1:c.286A>G	XP_011520729.1:p.Ile96Val
XR_932805.1:n.1795A>G
XM_011522424.3:c.1774A>G	XP_011520726.1:p.Ile592Val
XM_017023043.2:c.847A>G	XP_016878532.1:p.Ile283Val
NM_005236.3:c.1636A>G MANE Select	NP_005227.1:p.Ile546Val