Canonical Allele Identifier: CA493689564

Gene: ERCC4

Linked Data

• dbSNP Id: rs1277495372
• gnomAD v2: 16-14029550-T-C
• gnomAD v4: 16-13935693-T-C
• MyVariant Identifiers: chr16:g.14029550T>C (hg19) ; chr16:g.13935693T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935693T>C , CM000678.2:g.13935693T>C	GRCh38
NC_000016.9:g.14029550T>C , CM000678.1:g.14029550T>C	GRCh37
NC_000016.8:g.13937051T>C	NCBI36
NG_011442.1:g.20537T>C , LRG_463:g.20537T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1839T>C
ENST00000682617.1:c.1899T>C	ENSP00000507912.1:p.Phe633=
ENST00000682826.1:c.*1075T>C	ENSP00000507274.1:n.*1075T>C
ENST00000682909.1:n.3801T>C
ENST00000683277.1:n.3406T>C
ENST00000683407.1:n.1769T>C
ENST00000683962.1:c.*1455T>C	ENSP00000506854.1:n.*1455T>C
ENST00000311895.8:c.1761T>C MANE Select	ENSP00000310520.7:p.Phe587=
ENST00000311895.7:c.1761T>C	ENSP00000310520.7:p.Phe587=
ENST00000389138.7:n.1038T>C
NM_005236.2:c.1761T>C , LRG_463t1:c.1761T>C	NP_005227.1:p.Phe587=
XM_011522424.1:c.1899T>C	XP_011520726.1:p.Phe633=
XM_011522425.1:c.1218T>C	XP_011520727.1:p.Phe406=
XM_011522426.1:c.972T>C	XP_011520728.1:p.Phe324=
XM_011522427.1:c.411T>C	XP_011520729.1:p.Phe137=
XR_932805.1:n.1920T>C
XM_011522424.3:c.1899T>C	XP_011520726.1:p.Phe633=
XM_017023043.2:c.972T>C	XP_016878532.1:p.Phe324=
NM_005236.3:c.1761T>C MANE Select	NP_005227.1:p.Phe587=