Canonical Allele Identifier: CA394824690

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13948231-C-G
• MyVariant Identifiers: chr16:g.14042088C>G (hg19) ; chr16:g.13948231C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948231C>G , CM000678.2:g.13948231C>G	GRCh38
NC_000016.9:g.14042088C>G , CM000678.1:g.14042088C>G	GRCh37
NC_000016.8:g.13949589C>G	NCBI36
NG_011442.1:g.33075C>G , LRG_463:g.33075C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2773C>G	ENSP00000507912.1:p.Leu925Val
ENST00000683962.1:c.*2329C>G	ENSP00000506854.1:n.*2329C>G
ENST00000311895.8:c.2635C>G MANE Select	ENSP00000310520.7:p.Leu879Val
ENST00000311895.7:c.2635C>G	ENSP00000310520.7:p.Leu879Val
ENST00000389138.7:n.1912C>G
NM_005236.2:c.2635C>G , LRG_463t1:c.2635C>G	NP_005227.1:p.Leu879Val
XM_011522424.1:c.2773C>G	XP_011520726.1:p.Leu925Val
XM_011522425.1:c.2092C>G	XP_011520727.1:p.Leu698Val
XM_011522426.1:c.1846C>G	XP_011520728.1:p.Leu616Val
XM_011522427.1:c.1285C>G	XP_011520729.1:p.Leu429Val
XR_932805.1:n.2794C>G
XM_011522424.3:c.2773C>G	XP_011520726.1:p.Leu925Val
XM_017023043.2:c.1846C>G	XP_016878532.1:p.Leu616Val
NM_005236.3:c.2635C>G MANE Select	NP_005227.1:p.Leu879Val