Canonical Allele Identifier: CA493444383
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs2032483713
MyVariant Identifiers: chr16:g.14038634C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944777C>T , CM000678.2:g.13944777C>T GRCh38
NC_000016.9:g.14038634C>T , CM000678.1:g.14038634C>T GRCh37
NC_000016.8:g.13946135C>T NCBI36
NG_011442.1:g.29621C>T , LRG_463:g.29621C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2097C>T ENSP00000507912.1:p.Asn699=
ENST00000683962.1:c.*1653C>T ENSP00000506854.1:n.*1653C>T
ENST00000311895.8:c.1959C>T MANE Select ENSP00000310520.7:p.Asn653=
ENST00000311895.7:c.1959C>T ENSP00000310520.7:p.Asn653=
ENST00000389138.7:n.1236C>T
ENST00000462862.1:c.272C>T ENSP00000461322.1:n.272C>T
NM_005236.2:c.1959C>T , LRG_463t1:c.1959C>T NP_005227.1:p.Asn653=
XM_011522424.1:c.2097C>T XP_011520726.1:p.Asn699=
XM_011522425.1:c.1416C>T XP_011520727.1:p.Asn472=
XM_011522426.1:c.1170C>T XP_011520728.1:p.Asn390=
XM_011522427.1:c.609C>T XP_011520729.1:p.Asn203=
XR_932805.1:n.2118C>T
XM_011522424.3:c.2097C>T XP_011520726.1:p.Asn699=
XM_017023043.2:c.1170C>T XP_016878532.1:p.Asn390=
NM_005236.3:c.1959C>T MANE Select NP_005227.1:p.Asn653=