Canonical Allele Identifier: CA7910492

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1048866
• ClinVar RCV Id: RCV001871916 ; RCV002548497
• dbSNP Id: rs766111215
• ExAC: 16:14029333 G / A
• gnomAD v2: 16-14029333-G-A
• gnomAD v3: 16-13935476-G-A
• gnomAD v4: 16-13935476-G-A
• MyVariant Identifiers: chr16:g.14029333G>A (hg19) ; chr16:g.13935476G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935476G>A , CM000678.2:g.13935476G>A	GRCh38
NC_000016.9:g.14029333G>A , CM000678.1:g.14029333G>A	GRCh37
NC_000016.8:g.13936834G>A	NCBI36
NG_011442.1:g.20320G>A , LRG_463:g.20320G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1622G>A
ENST00000682617.1:c.1682G>A	ENSP00000507912.1:p.Arg561His
ENST00000682826.1:c.*858G>A	ENSP00000507274.1:n.*858G>A
ENST00000682909.1:n.3584G>A
ENST00000683277.1:n.3189G>A
ENST00000683407.1:n.1552G>A
ENST00000683962.1:c.*1238G>A	ENSP00000506854.1:n.*1238G>A
ENST00000311895.8:c.1544G>A MANE Select	ENSP00000310520.7:p.Arg515His
ENST00000311895.7:c.1544G>A	ENSP00000310520.7:p.Arg515His
ENST00000389138.7:n.821G>A
NM_005236.2:c.1544G>A , LRG_463t1:c.1544G>A	NP_005227.1:p.Arg515His
XM_011522424.1:c.1682G>A	XP_011520726.1:p.Arg561His
XM_011522425.1:c.1001G>A	XP_011520727.1:p.Arg334His
XM_011522426.1:c.755G>A	XP_011520728.1:p.Arg252His
XM_011522427.1:c.194G>A	XP_011520729.1:p.Arg65His
XR_932805.1:n.1703G>A
XM_011522424.3:c.1682G>A	XP_011520726.1:p.Arg561His
XM_017023043.2:c.755G>A	XP_016878532.1:p.Arg252His
NM_005236.3:c.1544G>A MANE Select	NP_005227.1:p.Arg515His