Canonical Allele Identifier: CA394810730

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029231A>G (hg19) ; chr16:g.13935374A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935374A>G , CM000678.2:g.13935374A>G	GRCh38
NC_000016.9:g.14029231A>G , CM000678.1:g.14029231A>G	GRCh37
NC_000016.8:g.13936732A>G	NCBI36
NG_011442.1:g.20218A>G , LRG_463:g.20218A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1520A>G
ENST00000682617.1:c.1580A>G	ENSP00000507912.1:p.Lys527Arg
ENST00000682826.1:c.*756A>G	ENSP00000507274.1:n.*756A>G
ENST00000682909.1:n.3482A>G
ENST00000683277.1:n.3087A>G
ENST00000683407.1:n.1450A>G
ENST00000683962.1:c.*1136A>G	ENSP00000506854.1:n.*1136A>G
ENST00000311895.8:c.1442A>G MANE Select	ENSP00000310520.7:p.Lys481Arg
ENST00000311895.7:c.1442A>G	ENSP00000310520.7:p.Lys481Arg
ENST00000389138.7:n.719A>G
ENST00000573018.1:n.510A>G
NM_005236.2:c.1442A>G , LRG_463t1:c.1442A>G	NP_005227.1:p.Lys481Arg
XM_011522424.1:c.1580A>G	XP_011520726.1:p.Lys527Arg
XM_011522425.1:c.899A>G	XP_011520727.1:p.Lys300Arg
XM_011522426.1:c.653A>G	XP_011520728.1:p.Lys218Arg
XM_011522427.1:c.92A>G	XP_011520729.1:p.Lys31Arg
XR_932805.1:n.1601A>G
XM_011522424.3:c.1580A>G	XP_011520726.1:p.Lys527Arg
XM_017023043.2:c.653A>G	XP_016878532.1:p.Lys218Arg
NM_005236.3:c.1442A>G MANE Select	NP_005227.1:p.Lys481Arg