Canonical Allele Identifier: CA493444472

Gene: ERCC4

Linked Data

• dbSNP Id: rs1809064901
• gnomAD v4: 16-13948224-A-G
• MyVariant Identifiers: chr16:g.14042081A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948224A>G , CM000678.2:g.13948224A>G	GRCh38
NC_000016.9:g.14042081A>G , CM000678.1:g.14042081A>G	GRCh37
NC_000016.8:g.13949582A>G	NCBI36
NG_011442.1:g.33068A>G , LRG_463:g.33068A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2766A>G	ENSP00000507912.1:p.Leu922=
ENST00000683962.1:c.*2322A>G	ENSP00000506854.1:n.*2322A>G
ENST00000311895.8:c.2628A>G MANE Select	ENSP00000310520.7:p.Leu876=
ENST00000311895.7:c.2628A>G	ENSP00000310520.7:p.Leu876=
ENST00000389138.7:n.1905A>G
NM_005236.2:c.2628A>G , LRG_463t1:c.2628A>G	NP_005227.1:p.Leu876=
XM_011522424.1:c.2766A>G	XP_011520726.1:p.Leu922=
XM_011522425.1:c.2085A>G	XP_011520727.1:p.Leu695=
XM_011522426.1:c.1839A>G	XP_011520728.1:p.Leu613=
XM_011522427.1:c.1278A>G	XP_011520729.1:p.Leu426=
XR_932805.1:n.2787A>G
XM_011522424.3:c.2766A>G	XP_011520726.1:p.Leu922=
XM_017023043.2:c.1839A>G	XP_016878532.1:p.Leu613=
NM_005236.3:c.2628A>G MANE Select	NP_005227.1:p.Leu876=