Canonical Allele Identifier: CA394812616

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029542C>G (hg19) ; chr16:g.13935685C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935685C>G , CM000678.2:g.13935685C>G	GRCh38
NC_000016.9:g.14029542C>G , CM000678.1:g.14029542C>G	GRCh37
NC_000016.8:g.13937043C>G	NCBI36
NG_011442.1:g.20529C>G , LRG_463:g.20529C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1831C>G
ENST00000682617.1:c.1891C>G	ENSP00000507912.1:p.Leu631Val
ENST00000682826.1:c.*1067C>G	ENSP00000507274.1:n.*1067C>G
ENST00000682909.1:n.3793C>G
ENST00000683277.1:n.3398C>G
ENST00000683407.1:n.1761C>G
ENST00000683962.1:c.*1447C>G	ENSP00000506854.1:n.*1447C>G
ENST00000311895.8:c.1753C>G MANE Select	ENSP00000310520.7:p.Leu585Val
ENST00000311895.7:c.1753C>G	ENSP00000310520.7:p.Leu585Val
ENST00000389138.7:n.1030C>G
NM_005236.2:c.1753C>G , LRG_463t1:c.1753C>G	NP_005227.1:p.Leu585Val
XM_011522424.1:c.1891C>G	XP_011520726.1:p.Leu631Val
XM_011522425.1:c.1210C>G	XP_011520727.1:p.Leu404Val
XM_011522426.1:c.964C>G	XP_011520728.1:p.Leu322Val
XM_011522427.1:c.403C>G	XP_011520729.1:p.Leu135Val
XR_932805.1:n.1912C>G
XM_011522424.3:c.1891C>G	XP_011520726.1:p.Leu631Val
XM_017023043.2:c.964C>G	XP_016878532.1:p.Leu322Val
NM_005236.3:c.1753C>G MANE Select	NP_005227.1:p.Leu585Val