Canonical Allele Identifier: CA143941

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 55829
• ClinVar RCV Id: RCV000049250 ; RCV000700109 ; RCV000762956 ; RCV002222373 ; RCV003415812
• dbSNP Id: rs147105770
• ExAC: 16:14029554 C / T
• gnomAD v2: 16-14029554-C-T
• gnomAD v3: 16-13935697-C-T
• gnomAD v4: 16-13935697-C-T
• MyVariant Identifiers: chr16:g.14029554C>T (hg19) ; chr16:g.13935697C>T (hg38)
• PubMed: PMID:21612988 ; PMID:23623389

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935697C>T , CM000678.2:g.13935697C>T	GRCh38
NC_000016.9:g.14029554C>T , CM000678.1:g.14029554C>T	GRCh37
NC_000016.8:g.13937055C>T	NCBI36
NG_011442.1:g.20541C>T , LRG_463:g.20541C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1843C>T
ENST00000682617.1:c.1903C>T	ENSP00000507912.1:p.Arg635Trp
ENST00000682826.1:c.*1079C>T	ENSP00000507274.1:n.*1079C>T
ENST00000682909.1:n.3805C>T
ENST00000683277.1:n.3410C>T
ENST00000683407.1:n.1773C>T
ENST00000683962.1:c.*1459C>T	ENSP00000506854.1:n.*1459C>T
ENST00000311895.8:c.1765C>T MANE Select	ENSP00000310520.7:p.Arg589Trp
ENST00000311895.7:c.1765C>T	ENSP00000310520.7:p.Arg589Trp
ENST00000389138.7:n.1042C>T
NM_005236.2:c.1765C>T , LRG_463t1:c.1765C>T	NP_005227.1:p.Arg589Trp
XM_011522424.1:c.1903C>T	XP_011520726.1:p.Arg635Trp
XM_011522425.1:c.1222C>T	XP_011520727.1:p.Arg408Trp
XM_011522426.1:c.976C>T	XP_011520728.1:p.Arg326Trp
XM_011522427.1:c.415C>T	XP_011520729.1:p.Arg139Trp
XR_932805.1:n.1924C>T
XM_011522424.3:c.1903C>T	XP_011520726.1:p.Arg635Trp
XM_017023043.2:c.976C>T	XP_016878532.1:p.Arg326Trp
NM_005236.3:c.1765C>T MANE Select	NP_005227.1:p.Arg589Trp