Canonical Allele Identifier: CA394824489

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 945531
• ClinVar RCV Id: RCV001216191
• dbSNP Id: rs2032559742
• MyVariant Identifiers: chr16:g.14042028A>T (hg19) ; chr16:g.13948171A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948171A>T , CM000678.2:g.13948171A>T	GRCh38
NC_000016.9:g.14042028A>T , CM000678.1:g.14042028A>T	GRCh37
NC_000016.8:g.13949529A>T	NCBI36
NG_011442.1:g.33015A>T , LRG_463:g.33015A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2713A>T	ENSP00000507912.1:p.Asn905Tyr
ENST00000683962.1:c.*2269A>T	ENSP00000506854.1:n.*2269A>T
ENST00000311895.8:c.2575A>T MANE Select	ENSP00000310520.7:p.Asn859Tyr
ENST00000311895.7:c.2575A>T	ENSP00000310520.7:p.Asn859Tyr
ENST00000389138.7:n.1852A>T
NM_005236.2:c.2575A>T , LRG_463t1:c.2575A>T	NP_005227.1:p.Asn859Tyr
XM_011522424.1:c.2713A>T	XP_011520726.1:p.Asn905Tyr
XM_011522425.1:c.2032A>T	XP_011520727.1:p.Asn678Tyr
XM_011522426.1:c.1786A>T	XP_011520728.1:p.Asn596Tyr
XM_011522427.1:c.1225A>T	XP_011520729.1:p.Asn409Tyr
XR_932805.1:n.2734A>T
XM_011522424.3:c.2713A>T	XP_011520726.1:p.Asn905Tyr
XM_017023043.2:c.1786A>T	XP_016878532.1:p.Asn596Tyr
NM_005236.3:c.2575A>T MANE Select	NP_005227.1:p.Asn859Tyr