Canonical Allele Identifier: CA394821172

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2944744
• ClinVar RCV Id: RCV003808446
• gnomAD v4: 16-13947646-A-G
• MyVariant Identifiers: chr16:g.14041503A>G (hg19) ; chr16:g.13947646A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947646A>G , CM000678.2:g.13947646A>G	GRCh38
NC_000016.9:g.14041503A>G , CM000678.1:g.14041503A>G	GRCh37
NC_000016.8:g.13949004A>G	NCBI36
NG_011442.1:g.32490A>G , LRG_463:g.32490A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2188A>G	ENSP00000507912.1:p.Ile730Val
ENST00000683962.1:c.*1744A>G	ENSP00000506854.1:n.*1744A>G
ENST00000311895.8:c.2050A>G MANE Select	ENSP00000310520.7:p.Ile684Val
ENST00000311895.7:c.2050A>G	ENSP00000310520.7:p.Ile684Val
ENST00000389138.7:n.1327A>G
ENST00000462862.1:c.363A>G	ENSP00000461322.1:n.363A>G
NM_005236.2:c.2050A>G , LRG_463t1:c.2050A>G	NP_005227.1:p.Ile684Val
XM_011522424.1:c.2188A>G	XP_011520726.1:p.Ile730Val
XM_011522425.1:c.1507A>G	XP_011520727.1:p.Ile503Val
XM_011522426.1:c.1261A>G	XP_011520728.1:p.Ile421Val
XM_011522427.1:c.700A>G	XP_011520729.1:p.Ile234Val
XR_932805.1:n.2209A>G
XM_011522424.3:c.2188A>G	XP_011520726.1:p.Ile730Val
XM_017023043.2:c.1261A>G	XP_016878532.1:p.Ile421Val
NM_005236.3:c.2050A>G MANE Select	NP_005227.1:p.Ile684Val