Canonical Allele Identifier: CA394811529

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141607614
• MyVariant Identifiers: chr16:g.14029341A>G (hg19) ; chr16:g.13935484A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935484A>G , CM000678.2:g.13935484A>G	GRCh38
NC_000016.9:g.14029341A>G , CM000678.1:g.14029341A>G	GRCh37
NC_000016.8:g.13936842A>G	NCBI36
NG_011442.1:g.20328A>G , LRG_463:g.20328A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1630A>G
ENST00000682617.1:c.1690A>G	ENSP00000507912.1:p.Ile564Val
ENST00000682826.1:c.*866A>G	ENSP00000507274.1:n.*866A>G
ENST00000682909.1:n.3592A>G
ENST00000683277.1:n.3197A>G
ENST00000683407.1:n.1560A>G
ENST00000683962.1:c.*1246A>G	ENSP00000506854.1:n.*1246A>G
ENST00000311895.8:c.1552A>G MANE Select	ENSP00000310520.7:p.Ile518Val
ENST00000311895.7:c.1552A>G	ENSP00000310520.7:p.Ile518Val
ENST00000389138.7:n.829A>G
NM_005236.2:c.1552A>G , LRG_463t1:c.1552A>G	NP_005227.1:p.Ile518Val
XM_011522424.1:c.1690A>G	XP_011520726.1:p.Ile564Val
XM_011522425.1:c.1009A>G	XP_011520727.1:p.Ile337Val
XM_011522426.1:c.763A>G	XP_011520728.1:p.Ile255Val
XM_011522427.1:c.202A>G	XP_011520729.1:p.Ile68Val
XR_932805.1:n.1711A>G
XM_011522424.3:c.1690A>G	XP_011520726.1:p.Ile564Val
XM_017023043.2:c.763A>G	XP_016878532.1:p.Ile255Val
NM_005236.3:c.1552A>G MANE Select	NP_005227.1:p.Ile518Val