Canonical Allele Identifier: CA394818126

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14038672C>A (hg19) ; chr16:g.13944815C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944815C>A , CM000678.2:g.13944815C>A	GRCh38
NC_000016.9:g.14038672C>A , CM000678.1:g.14038672C>A	GRCh37
NC_000016.8:g.13946173C>A	NCBI36
NG_011442.1:g.29659C>A , LRG_463:g.29659C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2135C>A	ENSP00000507912.1:p.Ser712Tyr
ENST00000683962.1:c.*1691C>A	ENSP00000506854.1:n.*1691C>A
ENST00000311895.8:c.1997C>A MANE Select	ENSP00000310520.7:p.Ser666Tyr
ENST00000311895.7:c.1997C>A	ENSP00000310520.7:p.Ser666Tyr
ENST00000389138.7:n.1274C>A
ENST00000462862.1:c.310C>A	ENSP00000461322.1:n.310C>A
NM_005236.2:c.1997C>A , LRG_463t1:c.1997C>A	NP_005227.1:p.Ser666Tyr
XM_011522424.1:c.2135C>A	XP_011520726.1:p.Ser712Tyr
XM_011522425.1:c.1454C>A	XP_011520727.1:p.Ser485Tyr
XM_011522426.1:c.1208C>A	XP_011520728.1:p.Ser403Tyr
XM_011522427.1:c.647C>A	XP_011520729.1:p.Ser216Tyr
XR_932805.1:n.2156C>A
XM_011522424.3:c.2135C>A	XP_011520726.1:p.Ser712Tyr
XM_017023043.2:c.1208C>A	XP_016878532.1:p.Ser403Tyr
NM_005236.3:c.1997C>A MANE Select	NP_005227.1:p.Ser666Tyr