Canonical Allele Identifier: CA7910562

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 541252
• ClinVar RCV Id: RCV000651479 ; RCV000989534 ; RCV001788310 ; RCV002257913 ; RCV002531975 ; RCV003965394
• dbSNP Id: rs2020952
• ExAC: 16:14031618 T / C
• gnomAD v2: 16-14031618-T-C
• gnomAD v3: 16-13937761-T-C
• gnomAD v4: 16-13937761-T-C
• MyVariant Identifiers: chr16:g.14031618T>C (hg19) ; chr16:g.13937761T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13937761T>C , CM000678.2:g.13937761T>C	GRCh38
NC_000016.9:g.14031618T>C , CM000678.1:g.14031618T>C	GRCh37
NC_000016.8:g.13939119T>C	NCBI36
NG_011442.1:g.22605T>C , LRG_463:g.22605T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.1950-5T>C	ENSP00000507912.1:n.1950-5T>C
ENST00000682826.1:c.*1126-5T>C	ENSP00000507274.1:n.*1126-5T>C
ENST00000682909.1:n.3852-5T>C
ENST00000683277.1:n.3457-5T>C
ENST00000683962.1:c.*1506-5T>C	ENSP00000506854.1:n.*1506-5T>C
ENST00000311895.8:c.1812-5T>C MANE Select	ENSP00000310520.7:n.1812-5T>C
ENST00000311895.7:c.1812-5T>C	ENSP00000310520.7:n.1812-5T>C
ENST00000389138.7:n.1089-5T>C
NM_005236.2:c.1812-5T>C , LRG_463t1:c.1812-5T>C	NP_005227.1:n.1812-5T>C
XM_011522424.1:c.1950-5T>C	XP_011520726.1:n.1950-5T>C
XM_011522425.1:c.1269-5T>C	XP_011520727.1:n.1269-5T>C
XM_011522426.1:c.1023-5T>C	XP_011520728.1:n.1023-5T>C
XM_011522427.1:c.462-5T>C	XP_011520729.1:n.462-5T>C
XR_932805.1:n.1971-5T>C
XM_011522424.3:c.1950-5T>C	XP_011520726.1:n.1950-5T>C
XM_017023043.2:c.1023-5T>C	XP_016878532.1:n.1023-5T>C
NM_005236.3:c.1812-5T>C MANE Select	NP_005227.1:n.1812-5T>C