Canonical Allele Identifier: CA394812774

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032277164
• gnomAD v4: 16-13935721-A-G
• MyVariant Identifiers: chr16:g.14029578A>G (hg19) ; chr16:g.13935721A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935721A>G , CM000678.2:g.13935721A>G	GRCh38
NC_000016.9:g.14029578A>G , CM000678.1:g.14029578A>G	GRCh37
NC_000016.8:g.13937079A>G	NCBI36
NG_011442.1:g.20565A>G , LRG_463:g.20565A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1867A>G
ENST00000682617.1:c.1927A>G	ENSP00000507912.1:p.Ser643Gly
ENST00000682826.1:c.*1103A>G	ENSP00000507274.1:n.*1103A>G
ENST00000682909.1:n.3829A>G
ENST00000683277.1:n.3434A>G
ENST00000683407.1:n.1797A>G
ENST00000683962.1:c.*1483A>G	ENSP00000506854.1:n.*1483A>G
ENST00000311895.8:c.1789A>G MANE Select	ENSP00000310520.7:p.Ser597Gly
ENST00000311895.7:c.1789A>G	ENSP00000310520.7:p.Ser597Gly
ENST00000389138.7:n.1066A>G
NM_005236.2:c.1789A>G , LRG_463t1:c.1789A>G	NP_005227.1:p.Ser597Gly
XM_011522424.1:c.1927A>G	XP_011520726.1:p.Ser643Gly
XM_011522425.1:c.1246A>G	XP_011520727.1:p.Ser416Gly
XM_011522426.1:c.1000A>G	XP_011520728.1:p.Ser334Gly
XM_011522427.1:c.439A>G	XP_011520729.1:p.Ser147Gly
XR_932805.1:n.1948A>G
XM_011522424.3:c.1927A>G	XP_011520726.1:p.Ser643Gly
XM_017023043.2:c.1000A>G	XP_016878532.1:p.Ser334Gly
NM_005236.3:c.1789A>G MANE Select	NP_005227.1:p.Ser597Gly