Canonical Allele Identifier: CA394811470

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935470-G-T
• MyVariant Identifiers: chr16:g.14029327G>T (hg19) ; chr16:g.13935470G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935470G>T , CM000678.2:g.13935470G>T	GRCh38
NC_000016.9:g.14029327G>T , CM000678.1:g.14029327G>T	GRCh37
NC_000016.8:g.13936828G>T	NCBI36
NG_011442.1:g.20314G>T , LRG_463:g.20314G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1616G>T
ENST00000682617.1:c.1676G>T	ENSP00000507912.1:p.Gly559Val
ENST00000682826.1:c.*852G>T	ENSP00000507274.1:n.*852G>T
ENST00000682909.1:n.3578G>T
ENST00000683277.1:n.3183G>T
ENST00000683407.1:n.1546G>T
ENST00000683962.1:c.*1232G>T	ENSP00000506854.1:n.*1232G>T
ENST00000311895.8:c.1538G>T MANE Select	ENSP00000310520.7:p.Gly513Val
ENST00000311895.7:c.1538G>T	ENSP00000310520.7:p.Gly513Val
ENST00000389138.7:n.815G>T
NM_005236.2:c.1538G>T , LRG_463t1:c.1538G>T	NP_005227.1:p.Gly513Val
XM_011522424.1:c.1676G>T	XP_011520726.1:p.Gly559Val
XM_011522425.1:c.995G>T	XP_011520727.1:p.Gly332Val
XM_011522426.1:c.749G>T	XP_011520728.1:p.Gly250Val
XM_011522427.1:c.188G>T	XP_011520729.1:p.Gly63Val
XR_932805.1:n.1697G>T
XM_011522424.3:c.1676G>T	XP_011520726.1:p.Gly559Val
XM_017023043.2:c.749G>T	XP_016878532.1:p.Gly250Val
NM_005236.3:c.1538G>T MANE Select	NP_005227.1:p.Gly513Val