Canonical Allele Identifier: CA7910732

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1692884
• ClinVar RCV Id: RCV002258700
• dbSNP Id: rs369736388
• ExAC: 16:14041845 C / G
• gnomAD v2: 16-14041845-C-G
• gnomAD v3: 16-13947988-C-G
• gnomAD v4: 16-13947988-C-G
• COSMIC: COSM471318
• MyVariant Identifiers: chr16:g.14041845C>G (hg19) ; chr16:g.13947988C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947988C>G , CM000678.2:g.13947988C>G	GRCh38
NC_000016.9:g.14041845C>G , CM000678.1:g.14041845C>G	GRCh37
NC_000016.8:g.13949346C>G	NCBI36
NG_011442.1:g.32832C>G , LRG_463:g.32832C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2530C>G	ENSP00000507912.1:p.Leu844Val
ENST00000683962.1:c.*2086C>G	ENSP00000506854.1:n.*2086C>G
ENST00000311895.8:c.2392C>G MANE Select	ENSP00000310520.7:p.Leu798Val
ENST00000311895.7:c.2392C>G	ENSP00000310520.7:p.Leu798Val
ENST00000389138.7:n.1669C>G
ENST00000462862.1:c.705C>G	ENSP00000461322.1:n.705C>G
NM_005236.2:c.2392C>G , LRG_463t1:c.2392C>G	NP_005227.1:p.Leu798Val
XM_011522424.1:c.2530C>G	XP_011520726.1:p.Leu844Val
XM_011522425.1:c.1849C>G	XP_011520727.1:p.Leu617Val
XM_011522426.1:c.1603C>G	XP_011520728.1:p.Leu535Val
XM_011522427.1:c.1042C>G	XP_011520729.1:p.Leu348Val
XR_932805.1:n.2551C>G
XM_011522424.3:c.2530C>G	XP_011520726.1:p.Leu844Val
XM_017023043.2:c.1603C>G	XP_016878532.1:p.Leu535Val
NM_005236.3:c.2392C>G MANE Select	NP_005227.1:p.Leu798Val