Canonical Allele Identifier: CA394812320

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029461C>G (hg19) ; chr16:g.13935604C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935604C>G , CM000678.2:g.13935604C>G	GRCh38
NC_000016.9:g.14029461C>G , CM000678.1:g.14029461C>G	GRCh37
NC_000016.8:g.13936962C>G	NCBI36
NG_011442.1:g.20448C>G , LRG_463:g.20448C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1750C>G
ENST00000682617.1:c.1810C>G	ENSP00000507912.1:p.Leu604Val
ENST00000682826.1:c.*986C>G	ENSP00000507274.1:n.*986C>G
ENST00000682909.1:n.3712C>G
ENST00000683277.1:n.3317C>G
ENST00000683407.1:n.1680C>G
ENST00000683962.1:c.*1366C>G	ENSP00000506854.1:n.*1366C>G
ENST00000311895.8:c.1672C>G MANE Select	ENSP00000310520.7:p.Leu558Val
ENST00000311895.7:c.1672C>G	ENSP00000310520.7:p.Leu558Val
ENST00000389138.7:n.949C>G
NM_005236.2:c.1672C>G , LRG_463t1:c.1672C>G	NP_005227.1:p.Leu558Val
XM_011522424.1:c.1810C>G	XP_011520726.1:p.Leu604Val
XM_011522425.1:c.1129C>G	XP_011520727.1:p.Leu377Val
XM_011522426.1:c.883C>G	XP_011520728.1:p.Leu295Val
XM_011522427.1:c.322C>G	XP_011520729.1:p.Leu108Val
XR_932805.1:n.1831C>G
XM_011522424.3:c.1810C>G	XP_011520726.1:p.Leu604Val
XM_017023043.2:c.883C>G	XP_016878532.1:p.Leu295Val
NM_005236.3:c.1672C>G MANE Select	NP_005227.1:p.Leu558Val