Canonical Allele Identifier: CA7910529

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 1560028
• ClinVar RCV Id: RCV002195363
• dbSNP Id: rs367595904
• ExAC: 16:14029547 C / G
• gnomAD v2: 16-14029547-C-G
• gnomAD v3: 16-13935690-C-G
• gnomAD v4: 16-13935690-C-G
• MyVariant Identifiers: chr16:g.14029547C>G (hg19) ; chr16:g.13935690C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935690C>G , CM000678.2:g.13935690C>G	GRCh38
NC_000016.9:g.14029547C>G , CM000678.1:g.14029547C>G	GRCh37
NC_000016.8:g.13937048C>G	NCBI36
NG_011442.1:g.20534C>G , LRG_463:g.20534C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1836C>G
ENST00000682617.1:c.1896C>G	ENSP00000507912.1:p.Thr632=
ENST00000682826.1:c.*1072C>G	ENSP00000507274.1:n.*1072C>G
ENST00000682909.1:n.3798C>G
ENST00000683277.1:n.3403C>G
ENST00000683407.1:n.1766C>G
ENST00000683962.1:c.*1452C>G	ENSP00000506854.1:n.*1452C>G
ENST00000311895.8:c.1758C>G MANE Select	ENSP00000310520.7:p.Thr586=
ENST00000311895.7:c.1758C>G	ENSP00000310520.7:p.Thr586=
ENST00000389138.7:n.1035C>G
NM_005236.2:c.1758C>G , LRG_463t1:c.1758C>G	NP_005227.1:p.Thr586=
XM_011522424.1:c.1896C>G	XP_011520726.1:p.Thr632=
XM_011522425.1:c.1215C>G	XP_011520727.1:p.Thr405=
XM_011522426.1:c.969C>G	XP_011520728.1:p.Thr323=
XM_011522427.1:c.408C>G	XP_011520729.1:p.Thr136=
XR_932805.1:n.1917C>G
XM_011522424.3:c.1896C>G	XP_011520726.1:p.Thr632=
XM_017023043.2:c.969C>G	XP_016878532.1:p.Thr323=
NM_005236.3:c.1758C>G MANE Select	NP_005227.1:p.Thr586=