Canonical Allele Identifier: CA394804500

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14024657C>G (hg19) ; chr16:g.13930800C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13930800C>G , CM000678.2:g.13930800C>G	GRCh38
NC_000016.9:g.14024657C>G , CM000678.1:g.14024657C>G	GRCh37
NC_000016.8:g.13932158C>G	NCBI36
NG_011442.1:g.15644C>G , LRG_463:g.15644C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682552.1:n.871C>G
ENST00000682568.1:n.961C>G
ENST00000682617.1:c.1021C>G	ENSP00000507912.1:p.Leu341Val
ENST00000682826.1:c.*197C>G	ENSP00000507274.1:n.*197C>G
ENST00000682909.1:n.2923C>G
ENST00000683277.1:n.2528C>G
ENST00000683407.1:n.891C>G
ENST00000683962.1:c.*577C>G	ENSP00000506854.1:n.*577C>G
ENST00000311895.8:c.883C>G MANE Select	ENSP00000310520.7:p.Leu295Val
ENST00000311895.7:c.883C>G	ENSP00000310520.7:p.Leu295Val
ENST00000574194.1:c.410C>G
ENST00000574781.1:n.560C>G
ENST00000575156.5:c.883C>G	ENSP00000459933.1:p.Leu295Val
NM_005236.2:c.883C>G , LRG_463t1:c.883C>G	NP_005227.1:p.Leu295Val
XM_011522424.1:c.1021C>G	XP_011520726.1:p.Leu341Val
XM_011522425.1:c.340C>G	XP_011520727.1:p.Leu114Val
XM_011522426.1:c.94C>G	XP_011520728.1:p.Leu32Val
XR_932805.1:n.1042C>G
XM_011522424.3:c.1021C>G	XP_011520726.1:p.Leu341Val
XM_017023043.2:c.94C>G	XP_016878532.1:p.Leu32Val
NM_005236.3:c.883C>G MANE Select	NP_005227.1:p.Leu295Val