Canonical Allele Identifier: CA493689676
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14041613A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947756A>G , CM000678.2:g.13947756A>G GRCh38
NC_000016.9:g.14041613A>G , CM000678.1:g.14041613A>G GRCh37
NC_000016.8:g.13949114A>G NCBI36
NG_011442.1:g.32600A>G , LRG_463:g.32600A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2298A>G ENSP00000507912.1:p.Pro766=
ENST00000683962.1:c.*1854A>G ENSP00000506854.1:n.*1854A>G
ENST00000311895.8:c.2160A>G MANE Select ENSP00000310520.7:p.Pro720=
ENST00000311895.7:c.2160A>G ENSP00000310520.7:p.Pro720=
ENST00000389138.7:n.1437A>G
ENST00000462862.1:c.473A>G ENSP00000461322.1:n.473A>G
NM_005236.2:c.2160A>G , LRG_463t1:c.2160A>G NP_005227.1:p.Pro720=
XM_011522424.1:c.2298A>G XP_011520726.1:p.Pro766=
XM_011522425.1:c.1617A>G XP_011520727.1:p.Pro539=
XM_011522426.1:c.1371A>G XP_011520728.1:p.Pro457=
XM_011522427.1:c.810A>G XP_011520729.1:p.Pro270=
XR_932805.1:n.2319A>G
XM_011522424.3:c.2298A>G XP_011520726.1:p.Pro766=
XM_017023043.2:c.1371A>G XP_016878532.1:p.Pro457=
NM_005236.3:c.2160A>G MANE Select NP_005227.1:p.Pro720=