Canonical Allele Identifier: CA394812450

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 2928352
• ClinVar RCV Id: RCV003787174
• dbSNP Id: rs2032273235
• gnomAD v4: 16-13935625-G-A
• MyVariant Identifiers: chr16:g.14029482G>A (hg19) ; chr16:g.13935625G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935625G>A , CM000678.2:g.13935625G>A	GRCh38
NC_000016.9:g.14029482G>A , CM000678.1:g.14029482G>A	GRCh37
NC_000016.8:g.13936983G>A	NCBI36
NG_011442.1:g.20469G>A , LRG_463:g.20469G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1771G>A
ENST00000682617.1:c.1831G>A	ENSP00000507912.1:p.Ala611Thr
ENST00000682826.1:c.*1007G>A	ENSP00000507274.1:n.*1007G>A
ENST00000682909.1:n.3733G>A
ENST00000683277.1:n.3338G>A
ENST00000683407.1:n.1701G>A
ENST00000683962.1:c.*1387G>A	ENSP00000506854.1:n.*1387G>A
ENST00000311895.8:c.1693G>A MANE Select	ENSP00000310520.7:p.Ala565Thr
ENST00000311895.7:c.1693G>A	ENSP00000310520.7:p.Ala565Thr
ENST00000389138.7:n.970G>A
NM_005236.2:c.1693G>A , LRG_463t1:c.1693G>A	NP_005227.1:p.Ala565Thr
XM_011522424.1:c.1831G>A	XP_011520726.1:p.Ala611Thr
XM_011522425.1:c.1150G>A	XP_011520727.1:p.Ala384Thr
XM_011522426.1:c.904G>A	XP_011520728.1:p.Ala302Thr
XM_011522427.1:c.343G>A	XP_011520729.1:p.Ala115Thr
XR_932805.1:n.1852G>A
XM_011522424.3:c.1831G>A	XP_011520726.1:p.Ala611Thr
XM_017023043.2:c.904G>A	XP_016878532.1:p.Ala302Thr
NM_005236.3:c.1693G>A MANE Select	NP_005227.1:p.Ala565Thr