Canonical Allele Identifier: CA394812356

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141607942
• MyVariant Identifiers: chr16:g.14029468G>A (hg19) ; chr16:g.13935611G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935611G>A , CM000678.2:g.13935611G>A	GRCh38
NC_000016.9:g.14029468G>A , CM000678.1:g.14029468G>A	GRCh37
NC_000016.8:g.13936969G>A	NCBI36
NG_011442.1:g.20455G>A , LRG_463:g.20455G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1757G>A
ENST00000682617.1:c.1817G>A	ENSP00000507912.1:p.Cys606Tyr
ENST00000682826.1:c.*993G>A	ENSP00000507274.1:n.*993G>A
ENST00000682909.1:n.3719G>A
ENST00000683277.1:n.3324G>A
ENST00000683407.1:n.1687G>A
ENST00000683962.1:c.*1373G>A	ENSP00000506854.1:n.*1373G>A
ENST00000311895.8:c.1679G>A MANE Select	ENSP00000310520.7:p.Cys560Tyr
ENST00000311895.7:c.1679G>A	ENSP00000310520.7:p.Cys560Tyr
ENST00000389138.7:n.956G>A
NM_005236.2:c.1679G>A , LRG_463t1:c.1679G>A	NP_005227.1:p.Cys560Tyr
XM_011522424.1:c.1817G>A	XP_011520726.1:p.Cys606Tyr
XM_011522425.1:c.1136G>A	XP_011520727.1:p.Cys379Tyr
XM_011522426.1:c.890G>A	XP_011520728.1:p.Cys297Tyr
XM_011522427.1:c.329G>A	XP_011520729.1:p.Cys110Tyr
XR_932805.1:n.1838G>A
XM_011522424.3:c.1817G>A	XP_011520726.1:p.Cys606Tyr
XM_017023043.2:c.890G>A	XP_016878532.1:p.Cys297Tyr
NM_005236.3:c.1679G>A MANE Select	NP_005227.1:p.Cys560Tyr