Canonical Allele Identifier: CA394823021

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1318493
• ClinVar RCV Id: RCV001753268
• dbSNP Id: rs1465340264
• gnomAD v2: 16-14041776-T-G
• gnomAD v3: 16-13947919-T-G
• gnomAD v4: 16-13947919-T-G
• MyVariant Identifiers: chr16:g.14041776T>G (hg19) ; chr16:g.13947919T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947919T>G , CM000678.2:g.13947919T>G	GRCh38
NC_000016.9:g.14041776T>G , CM000678.1:g.14041776T>G	GRCh37
NC_000016.8:g.13949277T>G	NCBI36
NG_011442.1:g.32763T>G , LRG_463:g.32763T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2461T>G	ENSP00000507912.1:p.Leu821Val
ENST00000683962.1:c.*2017T>G	ENSP00000506854.1:n.*2017T>G
ENST00000311895.8:c.2323T>G MANE Select	ENSP00000310520.7:p.Leu775Val
ENST00000311895.7:c.2323T>G	ENSP00000310520.7:p.Leu775Val
ENST00000389138.7:n.1600T>G
ENST00000462862.1:c.636T>G	ENSP00000461322.1:n.636T>G
NM_005236.2:c.2323T>G , LRG_463t1:c.2323T>G	NP_005227.1:p.Leu775Val
XM_011522424.1:c.2461T>G	XP_011520726.1:p.Leu821Val
XM_011522425.1:c.1780T>G	XP_011520727.1:p.Leu594Val
XM_011522426.1:c.1534T>G	XP_011520728.1:p.Leu512Val
XM_011522427.1:c.973T>G	XP_011520729.1:p.Leu325Val
XR_932805.1:n.2482T>G
XM_011522424.3:c.2461T>G	XP_011520726.1:p.Leu821Val
XM_017023043.2:c.1534T>G	XP_016878532.1:p.Leu512Val
NM_005236.3:c.2323T>G MANE Select	NP_005227.1:p.Leu775Val