Canonical Allele Identifier: CA493444454
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14042036A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948179A>G , CM000678.2:g.13948179A>G GRCh38
NC_000016.9:g.14042036A>G , CM000678.1:g.14042036A>G GRCh37
NC_000016.8:g.13949537A>G NCBI36
NG_011442.1:g.33023A>G , LRG_463:g.33023A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2721A>G ENSP00000507912.1:p.Lys907=
ENST00000683962.1:c.*2277A>G ENSP00000506854.1:n.*2277A>G
ENST00000311895.8:c.2583A>G MANE Select ENSP00000310520.7:p.Lys861=
ENST00000311895.7:c.2583A>G ENSP00000310520.7:p.Lys861=
ENST00000389138.7:n.1860A>G
NM_005236.2:c.2583A>G , LRG_463t1:c.2583A>G NP_005227.1:p.Lys861=
XM_011522424.1:c.2721A>G XP_011520726.1:p.Lys907=
XM_011522425.1:c.2040A>G XP_011520727.1:p.Lys680=
XM_011522426.1:c.1794A>G XP_011520728.1:p.Lys598=
XM_011522427.1:c.1233A>G XP_011520729.1:p.Lys411=
XR_932805.1:n.2742A>G
XM_011522424.3:c.2721A>G XP_011520726.1:p.Lys907=
XM_017023043.2:c.1794A>G XP_016878532.1:p.Lys598=
NM_005236.3:c.2583A>G MANE Select NP_005227.1:p.Lys861=