Canonical Allele Identifier: CA394822651

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1348588
• ClinVar RCV Id: RCV002034990
• dbSNP Id: rs756050702
• MyVariant Identifiers: chr16:g.14041689A>G (hg19) ; chr16:g.13947832A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947832A>G , CM000678.2:g.13947832A>G	GRCh38
NC_000016.9:g.14041689A>G , CM000678.1:g.14041689A>G	GRCh37
NC_000016.8:g.13949190A>G	NCBI36
NG_011442.1:g.32676A>G , LRG_463:g.32676A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2374A>G	ENSP00000507912.1:p.Ile792Val
ENST00000683962.1:c.*1930A>G	ENSP00000506854.1:n.*1930A>G
ENST00000311895.8:c.2236A>G MANE Select	ENSP00000310520.7:p.Ile746Val
ENST00000311895.7:c.2236A>G	ENSP00000310520.7:p.Ile746Val
ENST00000389138.7:n.1513A>G
ENST00000462862.1:c.549A>G	ENSP00000461322.1:n.549A>G
NM_005236.2:c.2236A>G , LRG_463t1:c.2236A>G	NP_005227.1:p.Ile746Val
XM_011522424.1:c.2374A>G	XP_011520726.1:p.Ile792Val
XM_011522425.1:c.1693A>G	XP_011520727.1:p.Ile565Val
XM_011522426.1:c.1447A>G	XP_011520728.1:p.Ile483Val
XM_011522427.1:c.886A>G	XP_011520729.1:p.Ile296Val
XR_932805.1:n.2395A>G
XM_011522424.3:c.2374A>G	XP_011520726.1:p.Ile792Val
XM_017023043.2:c.1447A>G	XP_016878532.1:p.Ile483Val
NM_005236.3:c.2236A>G MANE Select	NP_005227.1:p.Ile746Val