Canonical Allele Identifier: CA7910537

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1710962
• ClinVar RCV Id: RCV002292249 ; RCV003289502
• dbSNP Id: rs777448181
• ExAC: 16:14029582 G / A
• gnomAD v2: 16-14029582-G-A
• gnomAD v3: 16-13935725-G-A
• gnomAD v4: 16-13935725-G-A
• MyVariant Identifiers: chr16:g.14029582G>A (hg19) ; chr16:g.13935725G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935725G>A , CM000678.2:g.13935725G>A	GRCh38
NC_000016.9:g.14029582G>A , CM000678.1:g.14029582G>A	GRCh37
NC_000016.8:g.13937083G>A	NCBI36
NG_011442.1:g.20569G>A , LRG_463:g.20569G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1871G>A
ENST00000682617.1:c.1931G>A	ENSP00000507912.1:p.Arg644Lys
ENST00000682826.1:c.*1107G>A	ENSP00000507274.1:n.*1107G>A
ENST00000682909.1:n.3833G>A
ENST00000683277.1:n.3438G>A
ENST00000683407.1:n.1801G>A
ENST00000683962.1:c.*1487G>A	ENSP00000506854.1:n.*1487G>A
ENST00000311895.8:c.1793G>A MANE Select	ENSP00000310520.7:p.Arg598Lys
ENST00000311895.7:c.1793G>A	ENSP00000310520.7:p.Arg598Lys
ENST00000389138.7:n.1070G>A
NM_005236.2:c.1793G>A , LRG_463t1:c.1793G>A	NP_005227.1:p.Arg598Lys
XM_011522424.1:c.1931G>A	XP_011520726.1:p.Arg644Lys
XM_011522425.1:c.1250G>A	XP_011520727.1:p.Arg417Lys
XM_011522426.1:c.1004G>A	XP_011520728.1:p.Arg335Lys
XM_011522427.1:c.443G>A	XP_011520729.1:p.Arg148Lys
XR_932805.1:n.1952G>A
XM_011522424.3:c.1931G>A	XP_011520726.1:p.Arg644Lys
XM_017023043.2:c.1004G>A	XP_016878532.1:p.Arg335Lys
NM_005236.3:c.1793G>A MANE Select	NP_005227.1:p.Arg598Lys