Canonical Allele Identifier: CA7910763
Gene: ERCC4 HGNC NCBI

Linked Data

ClinVar Variation Id: 855385
ClinVar RCV Id: RCV001060645
dbSNP Id: rs377562755

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948130A>G , CM000678.2:g.13948130A>G GRCh38
NC_000016.9:g.14041987A>G , CM000678.1:g.14041987A>G GRCh37
NC_000016.8:g.13949488A>G NCBI36
NG_011442.1:g.32974A>G , LRG_463:g.32974A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2672A>G ENSP00000507912.1:p.Asn891Ser
ENST00000683962.1:c.*2228A>G ENSP00000506854.1:n.*2228A>G
ENST00000311895.8:c.2534A>G MANE Select ENSP00000310520.7:p.Asn845Ser
ENST00000311895.7:c.2534A>G ENSP00000310520.7:p.Asn845Ser
ENST00000389138.7:n.1811A>G
NM_005236.2:c.2534A>G , LRG_463t1:c.2534A>G NP_005227.1:p.Asn845Ser
XM_011522424.1:c.2672A>G XP_011520726.1:p.Asn891Ser
XM_011522425.1:c.1991A>G XP_011520727.1:p.Asn664Ser
XM_011522426.1:c.1745A>G XP_011520728.1:p.Asn582Ser
XM_011522427.1:c.1184A>G XP_011520729.1:p.Asn395Ser
XR_932805.1:n.2693A>G
XM_011522424.3:c.2672A>G XP_011520726.1:p.Asn891Ser
XM_017023043.2:c.1745A>G XP_016878532.1:p.Asn582Ser
NM_005236.3:c.2534A>G MANE Select NP_005227.1:p.Asn845Ser