Canonical Allele Identifier: CA493690060

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 755979
• ClinVar RCV Id: RCV000933447
• dbSNP Id: rs1269027695
• gnomAD v2: 16-14041877-A-G
• gnomAD v3: 16-13948020-A-G
• gnomAD v4: 16-13948020-A-G
• MyVariant Identifiers: chr16:g.14041877A>G (hg19) ; chr16:g.13948020A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948020A>G , CM000678.2:g.13948020A>G	GRCh38
NC_000016.9:g.14041877A>G , CM000678.1:g.14041877A>G	GRCh37
NC_000016.8:g.13949378A>G	NCBI36
NG_011442.1:g.32864A>G , LRG_463:g.32864A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2562A>G	ENSP00000507912.1:p.Ala854=
ENST00000683962.1:c.*2118A>G	ENSP00000506854.1:n.*2118A>G
ENST00000311895.8:c.2424A>G MANE Select	ENSP00000310520.7:p.Ala808=
ENST00000311895.7:c.2424A>G	ENSP00000310520.7:p.Ala808=
ENST00000389138.7:n.1701A>G
NM_005236.2:c.2424A>G , LRG_463t1:c.2424A>G	NP_005227.1:p.Ala808=
XM_011522424.1:c.2562A>G	XP_011520726.1:p.Ala854=
XM_011522425.1:c.1881A>G	XP_011520727.1:p.Ala627=
XM_011522426.1:c.1635A>G	XP_011520728.1:p.Ala545=
XM_011522427.1:c.1074A>G	XP_011520729.1:p.Ala358=
XR_932805.1:n.2583A>G
XM_011522424.3:c.2562A>G	XP_011520726.1:p.Ala854=
XM_017023043.2:c.1635A>G	XP_016878532.1:p.Ala545=
NM_005236.3:c.2424A>G MANE Select	NP_005227.1:p.Ala808=