Canonical Allele Identifier: CA7910531

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2077533
• ClinVar RCV Id: RCV002976548 ; RCV002976549 ; RCV003325243
• dbSNP Id: rs371392134
• ExAC: 16:14029552 T / C
• gnomAD v2: 16-14029552-T-C
• gnomAD v3: 16-13935695-T-C
• gnomAD v4: 16-13935695-T-C
• MyVariant Identifiers: chr16:g.14029552T>C (hg19) ; chr16:g.13935695T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935695T>C , CM000678.2:g.13935695T>C	GRCh38
NC_000016.9:g.14029552T>C , CM000678.1:g.14029552T>C	GRCh37
NC_000016.8:g.13937053T>C	NCBI36
NG_011442.1:g.20539T>C , LRG_463:g.20539T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1841T>C
ENST00000682617.1:c.1901T>C	ENSP00000507912.1:p.Val634Ala
ENST00000682826.1:c.*1077T>C	ENSP00000507274.1:n.*1077T>C
ENST00000682909.1:n.3803T>C
ENST00000683277.1:n.3408T>C
ENST00000683407.1:n.1771T>C
ENST00000683962.1:c.*1457T>C	ENSP00000506854.1:n.*1457T>C
ENST00000311895.8:c.1763T>C MANE Select	ENSP00000310520.7:p.Val588Ala
ENST00000311895.7:c.1763T>C	ENSP00000310520.7:p.Val588Ala
ENST00000389138.7:n.1040T>C
NM_005236.2:c.1763T>C , LRG_463t1:c.1763T>C	NP_005227.1:p.Val588Ala
XM_011522424.1:c.1901T>C	XP_011520726.1:p.Val634Ala
XM_011522425.1:c.1220T>C	XP_011520727.1:p.Val407Ala
XM_011522426.1:c.974T>C	XP_011520728.1:p.Val325Ala
XM_011522427.1:c.413T>C	XP_011520729.1:p.Val138Ala
XR_932805.1:n.1922T>C
XM_011522424.3:c.1901T>C	XP_011520726.1:p.Val634Ala
XM_017023043.2:c.974T>C	XP_016878532.1:p.Val325Ala
NM_005236.3:c.1763T>C MANE Select	NP_005227.1:p.Val588Ala