Canonical Allele Identifier: CA394822886
Gene: ERCC4 HGNC NCBI

Linked Data

ClinVar Variation Id: 653697
ClinVar RCV Id: RCV000809506
dbSNP Id: rs1567253853

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947891G>T , CM000678.2:g.13947891G>T GRCh38
NC_000016.9:g.14041748G>T , CM000678.1:g.14041748G>T GRCh37
NC_000016.8:g.13949249G>T NCBI36
NG_011442.1:g.32735G>T , LRG_463:g.32735G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2433G>T ENSP00000507912.1:p.Lys811Asn
ENST00000683962.1:c.*1989G>T ENSP00000506854.1:n.*1989G>T
ENST00000311895.8:c.2295G>T MANE Select ENSP00000310520.7:p.Lys765Asn
ENST00000311895.7:c.2295G>T ENSP00000310520.7:p.Lys765Asn
ENST00000389138.7:n.1572G>T
ENST00000462862.1:c.608G>T ENSP00000461322.1:n.608G>T
NM_005236.2:c.2295G>T , LRG_463t1:c.2295G>T NP_005227.1:p.Lys765Asn
XM_011522424.1:c.2433G>T XP_011520726.1:p.Lys811Asn
XM_011522425.1:c.1752G>T XP_011520727.1:p.Lys584Asn
XM_011522426.1:c.1506G>T XP_011520728.1:p.Lys502Asn
XM_011522427.1:c.945G>T XP_011520729.1:p.Lys315Asn
XR_932805.1:n.2454G>T
XM_011522424.3:c.2433G>T XP_011520726.1:p.Lys811Asn
XM_017023043.2:c.1506G>T XP_016878532.1:p.Lys502Asn
NM_005236.3:c.2295G>T MANE Select NP_005227.1:p.Lys765Asn