Canonical Allele Identifier: CA394812252

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029449A>G (hg19) ; chr16:g.13935592A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935592A>G , CM000678.2:g.13935592A>G	GRCh38
NC_000016.9:g.14029449A>G , CM000678.1:g.14029449A>G	GRCh37
NC_000016.8:g.13936950A>G	NCBI36
NG_011442.1:g.20436A>G , LRG_463:g.20436A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1738A>G
ENST00000682617.1:c.1798A>G	ENSP00000507912.1:p.Ile600Val
ENST00000682826.1:c.*974A>G	ENSP00000507274.1:n.*974A>G
ENST00000682909.1:n.3700A>G
ENST00000683277.1:n.3305A>G
ENST00000683407.1:n.1668A>G
ENST00000683962.1:c.*1354A>G	ENSP00000506854.1:n.*1354A>G
ENST00000311895.8:c.1660A>G MANE Select	ENSP00000310520.7:p.Ile554Val
ENST00000311895.7:c.1660A>G	ENSP00000310520.7:p.Ile554Val
ENST00000389138.7:n.937A>G
NM_005236.2:c.1660A>G , LRG_463t1:c.1660A>G	NP_005227.1:p.Ile554Val
XM_011522424.1:c.1798A>G	XP_011520726.1:p.Ile600Val
XM_011522425.1:c.1117A>G	XP_011520727.1:p.Ile373Val
XM_011522426.1:c.871A>G	XP_011520728.1:p.Ile291Val
XM_011522427.1:c.310A>G	XP_011520729.1:p.Ile104Val
XR_932805.1:n.1819A>G
XM_011522424.3:c.1798A>G	XP_011520726.1:p.Ile600Val
XM_017023043.2:c.871A>G	XP_016878532.1:p.Ile291Val
NM_005236.3:c.1660A>G MANE Select	NP_005227.1:p.Ile554Val