Canonical Allele Identifier: CA7910489

Gene: ERCC4

Linked Data

• dbSNP Id: rs769679311
• ExAC: 16:14029326 G / A
• gnomAD v2: 16-14029326-G-A
• gnomAD v4: 16-13935469-G-A
• MyVariant Identifiers: chr16:g.14029326G>A (hg19) ; chr16:g.13935469G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935469G>A , CM000678.2:g.13935469G>A	GRCh38
NC_000016.9:g.14029326G>A , CM000678.1:g.14029326G>A	GRCh37
NC_000016.8:g.13936827G>A	NCBI36
NG_011442.1:g.20313G>A , LRG_463:g.20313G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1615G>A
ENST00000682617.1:c.1675G>A	ENSP00000507912.1:p.Gly559Arg
ENST00000682826.1:c.*851G>A	ENSP00000507274.1:n.*851G>A
ENST00000682909.1:n.3577G>A
ENST00000683277.1:n.3182G>A
ENST00000683407.1:n.1545G>A
ENST00000683962.1:c.*1231G>A	ENSP00000506854.1:n.*1231G>A
ENST00000311895.8:c.1537G>A MANE Select	ENSP00000310520.7:p.Gly513Arg
ENST00000311895.7:c.1537G>A	ENSP00000310520.7:p.Gly513Arg
ENST00000389138.7:n.814G>A
NM_005236.2:c.1537G>A , LRG_463t1:c.1537G>A	NP_005227.1:p.Gly513Arg
XM_011522424.1:c.1675G>A	XP_011520726.1:p.Gly559Arg
XM_011522425.1:c.994G>A	XP_011520727.1:p.Gly332Arg
XM_011522426.1:c.748G>A	XP_011520728.1:p.Gly250Arg
XM_011522427.1:c.187G>A	XP_011520729.1:p.Gly63Arg
XR_932805.1:n.1696G>A
XM_011522424.3:c.1675G>A	XP_011520726.1:p.Gly559Arg
XM_017023043.2:c.748G>A	XP_016878532.1:p.Gly250Arg
NM_005236.3:c.1537G>A MANE Select	NP_005227.1:p.Gly513Arg