Canonical Allele Identifier: CA394812582

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029534A>G (hg19) ; chr16:g.13935677A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935677A>G , CM000678.2:g.13935677A>G	GRCh38
NC_000016.9:g.14029534A>G , CM000678.1:g.14029534A>G	GRCh37
NC_000016.8:g.13937035A>G	NCBI36
NG_011442.1:g.20521A>G , LRG_463:g.20521A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1823A>G
ENST00000682617.1:c.1883A>G	ENSP00000507912.1:p.Asp628Gly
ENST00000682826.1:c.*1059A>G	ENSP00000507274.1:n.*1059A>G
ENST00000682909.1:n.3785A>G
ENST00000683277.1:n.3390A>G
ENST00000683407.1:n.1753A>G
ENST00000683962.1:c.*1439A>G	ENSP00000506854.1:n.*1439A>G
ENST00000311895.8:c.1745A>G MANE Select	ENSP00000310520.7:p.Asp582Gly
ENST00000311895.7:c.1745A>G	ENSP00000310520.7:p.Asp582Gly
ENST00000389138.7:n.1022A>G
NM_005236.2:c.1745A>G , LRG_463t1:c.1745A>G	NP_005227.1:p.Asp582Gly
XM_011522424.1:c.1883A>G	XP_011520726.1:p.Asp628Gly
XM_011522425.1:c.1202A>G	XP_011520727.1:p.Asp401Gly
XM_011522426.1:c.956A>G	XP_011520728.1:p.Asp319Gly
XM_011522427.1:c.395A>G	XP_011520729.1:p.Asp132Gly
XR_932805.1:n.1904A>G
XM_011522424.3:c.1883A>G	XP_011520726.1:p.Asp628Gly
XM_017023043.2:c.956A>G	XP_016878532.1:p.Asp319Gly
NM_005236.3:c.1745A>G MANE Select	NP_005227.1:p.Asp582Gly