Canonical Allele Identifier: CA394812467

Gene: ERCC4

Linked Data

• dbSNP Id: rs1157170232
• gnomAD v2: 16-14029489-C-A
• gnomAD v4: 16-13935632-C-A
• MyVariant Identifiers: chr16:g.14029489C>A (hg19) ; chr16:g.13935632C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935632C>A , CM000678.2:g.13935632C>A	GRCh38
NC_000016.9:g.14029489C>A , CM000678.1:g.14029489C>A	GRCh37
NC_000016.8:g.13936990C>A	NCBI36
NG_011442.1:g.20476C>A , LRG_463:g.20476C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1778C>A
ENST00000682617.1:c.1838C>A	ENSP00000507912.1:p.Thr613Lys
ENST00000682826.1:c.*1014C>A	ENSP00000507274.1:n.*1014C>A
ENST00000682909.1:n.3740C>A
ENST00000683277.1:n.3345C>A
ENST00000683407.1:n.1708C>A
ENST00000683962.1:c.*1394C>A	ENSP00000506854.1:n.*1394C>A
ENST00000311895.8:c.1700C>A MANE Select	ENSP00000310520.7:p.Thr567Lys
ENST00000311895.7:c.1700C>A	ENSP00000310520.7:p.Thr567Lys
ENST00000389138.7:n.977C>A
NM_005236.2:c.1700C>A , LRG_463t1:c.1700C>A	NP_005227.1:p.Thr567Lys
XM_011522424.1:c.1838C>A	XP_011520726.1:p.Thr613Lys
XM_011522425.1:c.1157C>A	XP_011520727.1:p.Thr386Lys
XM_011522426.1:c.911C>A	XP_011520728.1:p.Thr304Lys
XM_011522427.1:c.350C>A	XP_011520729.1:p.Thr117Lys
XR_932805.1:n.1859C>A
XM_011522424.3:c.1838C>A	XP_011520726.1:p.Thr613Lys
XM_017023043.2:c.911C>A	XP_016878532.1:p.Thr304Lys
NM_005236.3:c.1700C>A MANE Select	NP_005227.1:p.Thr567Lys