Canonical Allele Identifier: CA493690047

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13947999-C-G
• MyVariant Identifiers: chr16:g.14041856C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947999C>G , CM000678.2:g.13947999C>G	GRCh38
NC_000016.9:g.14041856C>G , CM000678.1:g.14041856C>G	GRCh37
NC_000016.8:g.13949357C>G	NCBI36
NG_011442.1:g.32843C>G , LRG_463:g.32843C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2541C>G	ENSP00000507912.1:p.Leu847=
ENST00000683962.1:c.*2097C>G	ENSP00000506854.1:n.*2097C>G
ENST00000311895.8:c.2403C>G MANE Select	ENSP00000310520.7:p.Leu801=
ENST00000311895.7:c.2403C>G	ENSP00000310520.7:p.Leu801=
ENST00000389138.7:n.1680C>G
ENST00000462862.1:c.716C>G	ENSP00000461322.1:n.716C>G
NM_005236.2:c.2403C>G , LRG_463t1:c.2403C>G	NP_005227.1:p.Leu801=
XM_011522424.1:c.2541C>G	XP_011520726.1:p.Leu847=
XM_011522425.1:c.1860C>G	XP_011520727.1:p.Leu620=
XM_011522426.1:c.1614C>G	XP_011520728.1:p.Leu538=
XM_011522427.1:c.1053C>G	XP_011520729.1:p.Leu351=
XR_932805.1:n.2562C>G
XM_011522424.3:c.2541C>G	XP_011520726.1:p.Leu847=
XM_017023043.2:c.1614C>G	XP_016878532.1:p.Leu538=
NM_005236.3:c.2403C>G MANE Select	NP_005227.1:p.Leu801=