Canonical Allele Identifier: CA493444422
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14038688A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944831A>G , CM000678.2:g.13944831A>G GRCh38
NC_000016.9:g.14038688A>G , CM000678.1:g.14038688A>G GRCh37
NC_000016.8:g.13946189A>G NCBI36
NG_011442.1:g.29675A>G , LRG_463:g.29675A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2151A>G ENSP00000507912.1:p.Lys717=
ENST00000683962.1:c.*1707A>G ENSP00000506854.1:n.*1707A>G
ENST00000311895.8:c.2013A>G MANE Select ENSP00000310520.7:p.Lys671=
ENST00000311895.7:c.2013A>G ENSP00000310520.7:p.Lys671=
ENST00000389138.7:n.1290A>G
ENST00000462862.1:c.326A>G ENSP00000461322.1:n.326A>G
NM_005236.2:c.2013A>G , LRG_463t1:c.2013A>G NP_005227.1:p.Lys671=
XM_011522424.1:c.2151A>G XP_011520726.1:p.Lys717=
XM_011522425.1:c.1470A>G XP_011520727.1:p.Lys490=
XM_011522426.1:c.1224A>G XP_011520728.1:p.Lys408=
XM_011522427.1:c.663A>G XP_011520729.1:p.Lys221=
XR_932805.1:n.2172A>G
XM_011522424.3:c.2151A>G XP_011520726.1:p.Lys717=
XM_017023043.2:c.1224A>G XP_016878532.1:p.Lys408=
NM_005236.3:c.2013A>G MANE Select NP_005227.1:p.Lys671=