Canonical Allele Identifier: CA7910626

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 930972
• ClinVar RCV Id: RCV001197035 ; RCV002258151 ; RCV002559253
• dbSNP Id: rs779366136
• ExAC: 16:14038654 C / T
• gnomAD v2: 16-14038654-C-T
• gnomAD v3: 16-13944797-C-T
• gnomAD v4: 16-13944797-C-T
• MyVariant Identifiers: chr16:g.14038654C>T (hg19) ; chr16:g.13944797C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944797C>T , CM000678.2:g.13944797C>T	GRCh38
NC_000016.9:g.14038654C>T , CM000678.1:g.14038654C>T	GRCh37
NC_000016.8:g.13946155C>T	NCBI36
NG_011442.1:g.29641C>T , LRG_463:g.29641C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2117C>T	ENSP00000507912.1:p.Thr706Ile
ENST00000683962.1:c.*1673C>T	ENSP00000506854.1:n.*1673C>T
ENST00000311895.8:c.1979C>T MANE Select	ENSP00000310520.7:p.Thr660Ile
ENST00000311895.7:c.1979C>T	ENSP00000310520.7:p.Thr660Ile
ENST00000389138.7:n.1256C>T
ENST00000462862.1:c.292C>T	ENSP00000461322.1:n.292C>T
NM_005236.2:c.1979C>T , LRG_463t1:c.1979C>T	NP_005227.1:p.Thr660Ile
XM_011522424.1:c.2117C>T	XP_011520726.1:p.Thr706Ile
XM_011522425.1:c.1436C>T	XP_011520727.1:p.Thr479Ile
XM_011522426.1:c.1190C>T	XP_011520728.1:p.Thr397Ile
XM_011522427.1:c.629C>T	XP_011520729.1:p.Thr210Ile
XR_932805.1:n.2138C>T
XM_011522424.3:c.2117C>T	XP_011520726.1:p.Thr706Ile
XM_017023043.2:c.1190C>T	XP_016878532.1:p.Thr397Ile
NM_005236.3:c.1979C>T MANE Select	NP_005227.1:p.Thr660Ile