Canonical Allele Identifier: CA158897

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 134145
• ClinVar RCV Id: RCV000120818 ; RCV000728799 ; RCV001209805 ; RCV001543122
• dbSNP Id: rs145315496
• ExAC: 16:14015891 T / C
• gnomAD v2: 16-14015891-T-C
• gnomAD v3: 16-13922034-T-C
• gnomAD v4: 16-13922034-T-C
• MyVariant Identifiers: chr16:g.14015891T>C (hg19) ; chr16:g.13922034T>C (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13922034T>C , CM000678.2:g.13922034T>C	GRCh38
NC_000016.9:g.14015891T>C , CM000678.1:g.14015891T>C	GRCh37
NC_000016.8:g.13923392T>C	NCBI36
NG_011442.1:g.6878T>C , LRG_463:g.6878T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682552.1:n.199T>C
ENST00000682568.1:n.141T>C
ENST00000682617.1:c.211T>C	ENSP00000507912.1:p.Tyr71His
ENST00000682826.1:c.211T>C	ENSP00000507274.1:p.Tyr71His
ENST00000682909.1:n.220T>C
ENST00000683277.1:n.1856T>C
ENST00000683407.1:n.219T>C
ENST00000683962.1:c.211T>C	ENSP00000506854.1:p.Tyr71His
ENST00000311895.8:c.211T>C MANE Select	ENSP00000310520.7:p.Tyr71His
ENST00000311895.7:c.211T>C	ENSP00000310520.7:p.Tyr71His
ENST00000575156.5:c.211T>C	ENSP00000459933.1:p.Tyr71His
ENST00000576348.1:n.186T>C
NM_005236.2:c.211T>C , LRG_463t1:c.211T>C	NP_005227.1:p.Tyr71His
XM_011522424.1:c.211T>C	XP_011520726.1:p.Tyr71His
XR_932805.1:n.232T>C
XR_933098.1:n.82+4491A>G
XR_933099.1:n.82+4491A>G
XR_933100.1:n.82+4491A>G
XM_011522424.3:c.211T>C	XP_011520726.1:p.Tyr71His
XM_017023043.2:c.-727T>C	XP_016878532.1:n.-727T>C
NM_005236.3:c.211T>C MANE Select	NP_005227.1:p.Tyr71His