Canonical Allele Identifier: CA394811934

Gene: ERCC4

Linked Data

• dbSNP Id: rs1403732232
• gnomAD v3: 16-13935545-T-G
• gnomAD v4: 16-13935545-T-G
• MyVariant Identifiers: chr16:g.14029402T>G (hg19) ; chr16:g.13935545T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935545T>G , CM000678.2:g.13935545T>G	GRCh38
NC_000016.9:g.14029402T>G , CM000678.1:g.14029402T>G	GRCh37
NC_000016.8:g.13936903T>G	NCBI36
NG_011442.1:g.20389T>G , LRG_463:g.20389T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1691T>G
ENST00000682617.1:c.1751T>G	ENSP00000507912.1:p.Leu584Trp
ENST00000682826.1:c.*927T>G	ENSP00000507274.1:n.*927T>G
ENST00000682909.1:n.3653T>G
ENST00000683277.1:n.3258T>G
ENST00000683407.1:n.1621T>G
ENST00000683962.1:c.*1307T>G	ENSP00000506854.1:n.*1307T>G
ENST00000311895.8:c.1613T>G MANE Select	ENSP00000310520.7:p.Leu538Trp
ENST00000311895.7:c.1613T>G	ENSP00000310520.7:p.Leu538Trp
ENST00000389138.7:n.890T>G
NM_005236.2:c.1613T>G , LRG_463t1:c.1613T>G	NP_005227.1:p.Leu538Trp
XM_011522424.1:c.1751T>G	XP_011520726.1:p.Leu584Trp
XM_011522425.1:c.1070T>G	XP_011520727.1:p.Leu357Trp
XM_011522426.1:c.824T>G	XP_011520728.1:p.Leu275Trp
XM_011522427.1:c.263T>G	XP_011520729.1:p.Leu88Trp
XR_932805.1:n.1772T>G
XM_011522424.3:c.1751T>G	XP_011520726.1:p.Leu584Trp
XM_017023043.2:c.824T>G	XP_016878532.1:p.Leu275Trp
NM_005236.3:c.1613T>G MANE Select	NP_005227.1:p.Leu538Trp