Canonical Allele Identifier: CA394824511

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2932823
• ClinVar RCV Id: RCV003797989
• dbSNP Id: rs202159590
• MyVariant Identifiers: chr16:g.14042038A>G (hg19) ; chr16:g.13948181A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948181A>G , CM000678.2:g.13948181A>G	GRCh38
NC_000016.9:g.14042038A>G , CM000678.1:g.14042038A>G	GRCh37
NC_000016.8:g.13949539A>G	NCBI36
NG_011442.1:g.33025A>G , LRG_463:g.33025A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2723A>G	ENSP00000507912.1:p.Asn908Ser
ENST00000683962.1:c.*2279A>G	ENSP00000506854.1:n.*2279A>G
ENST00000311895.8:c.2585A>G MANE Select	ENSP00000310520.7:p.Asn862Ser
ENST00000311895.7:c.2585A>G	ENSP00000310520.7:p.Asn862Ser
ENST00000389138.7:n.1862A>G
NM_005236.2:c.2585A>G , LRG_463t1:c.2585A>G	NP_005227.1:p.Asn862Ser
XM_011522424.1:c.2723A>G	XP_011520726.1:p.Asn908Ser
XM_011522425.1:c.2042A>G	XP_011520727.1:p.Asn681Ser
XM_011522426.1:c.1796A>G	XP_011520728.1:p.Asn599Ser
XM_011522427.1:c.1235A>G	XP_011520729.1:p.Asn412Ser
XR_932805.1:n.2744A>G
XM_011522424.3:c.2723A>G	XP_011520726.1:p.Asn908Ser
XM_017023043.2:c.1796A>G	XP_016878532.1:p.Asn599Ser
NM_005236.3:c.2585A>G MANE Select	NP_005227.1:p.Asn862Ser