Canonical Allele Identifier: CA7910491

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1710949
• ClinVar RCV Id: RCV002292236
• dbSNP Id: rs201514032
• ExAC: 16:14029330 A / G
• gnomAD v2: 16-14029330-A-G
• gnomAD v3: 16-13935473-A-G
• gnomAD v4: 16-13935473-A-G
• MyVariant Identifiers: chr16:g.14029330A>G (hg19) ; chr16:g.13935473A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935473A>G , CM000678.2:g.13935473A>G	GRCh38
NC_000016.9:g.14029330A>G , CM000678.1:g.14029330A>G	GRCh37
NC_000016.8:g.13936831A>G	NCBI36
NG_011442.1:g.20317A>G , LRG_463:g.20317A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1619A>G
ENST00000682617.1:c.1679A>G	ENSP00000507912.1:p.Tyr560Cys
ENST00000682826.1:c.*855A>G	ENSP00000507274.1:n.*855A>G
ENST00000682909.1:n.3581A>G
ENST00000683277.1:n.3186A>G
ENST00000683407.1:n.1549A>G
ENST00000683962.1:c.*1235A>G	ENSP00000506854.1:n.*1235A>G
ENST00000311895.8:c.1541A>G MANE Select	ENSP00000310520.7:p.Tyr514Cys
ENST00000311895.7:c.1541A>G	ENSP00000310520.7:p.Tyr514Cys
ENST00000389138.7:n.818A>G
NM_005236.2:c.1541A>G , LRG_463t1:c.1541A>G	NP_005227.1:p.Tyr514Cys
XM_011522424.1:c.1679A>G	XP_011520726.1:p.Tyr560Cys
XM_011522425.1:c.998A>G	XP_011520727.1:p.Tyr333Cys
XM_011522426.1:c.752A>G	XP_011520728.1:p.Tyr251Cys
XM_011522427.1:c.191A>G	XP_011520729.1:p.Tyr64Cys
XR_932805.1:n.1700A>G
XM_011522424.3:c.1679A>G	XP_011520726.1:p.Tyr560Cys
XM_017023043.2:c.752A>G	XP_016878532.1:p.Tyr251Cys
NM_005236.3:c.1541A>G MANE Select	NP_005227.1:p.Tyr514Cys