Canonical Allele Identifier: CA394812264

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2503514
• ClinVar RCV Id: RCV003230329
• MyVariant Identifiers: chr16:g.14029451C>G (hg19) ; chr16:g.13935594C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935594C>G , CM000678.2:g.13935594C>G	GRCh38
NC_000016.9:g.14029451C>G , CM000678.1:g.14029451C>G	GRCh37
NC_000016.8:g.13936952C>G	NCBI36
NG_011442.1:g.20438C>G , LRG_463:g.20438C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1740C>G
ENST00000682617.1:c.1800C>G	ENSP00000507912.1:p.Ile600Met
ENST00000682826.1:c.*976C>G	ENSP00000507274.1:n.*976C>G
ENST00000682909.1:n.3702C>G
ENST00000683277.1:n.3307C>G
ENST00000683407.1:n.1670C>G
ENST00000683962.1:c.*1356C>G	ENSP00000506854.1:n.*1356C>G
ENST00000311895.8:c.1662C>G MANE Select	ENSP00000310520.7:p.Ile554Met
ENST00000311895.7:c.1662C>G	ENSP00000310520.7:p.Ile554Met
ENST00000389138.7:n.939C>G
NM_005236.2:c.1662C>G , LRG_463t1:c.1662C>G	NP_005227.1:p.Ile554Met
XM_011522424.1:c.1800C>G	XP_011520726.1:p.Ile600Met
XM_011522425.1:c.1119C>G	XP_011520727.1:p.Ile373Met
XM_011522426.1:c.873C>G	XP_011520728.1:p.Ile291Met
XM_011522427.1:c.312C>G	XP_011520729.1:p.Ile104Met
XR_932805.1:n.1821C>G
XM_011522424.3:c.1800C>G	XP_011520726.1:p.Ile600Met
XM_017023043.2:c.873C>G	XP_016878532.1:p.Ile291Met
NM_005236.3:c.1662C>G MANE Select	NP_005227.1:p.Ile554Met