Canonical Allele Identifier: CA394822613

Gene: ERCC4

Linked Data

• dbSNP Id: rs1231006454
• gnomAD v2: 16-14041682-C-G
• gnomAD v4: 16-13947825-C-G
• MyVariant Identifiers: chr16:g.14041682C>G (hg19) ; chr16:g.13947825C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947825C>G , CM000678.2:g.13947825C>G	GRCh38
NC_000016.9:g.14041682C>G , CM000678.1:g.14041682C>G	GRCh37
NC_000016.8:g.13949183C>G	NCBI36
NG_011442.1:g.32669C>G , LRG_463:g.32669C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2367C>G	ENSP00000507912.1:p.Ser789Arg
ENST00000683962.1:c.*1923C>G	ENSP00000506854.1:n.*1923C>G
ENST00000311895.8:c.2229C>G MANE Select	ENSP00000310520.7:p.Ser743Arg
ENST00000311895.7:c.2229C>G	ENSP00000310520.7:p.Ser743Arg
ENST00000389138.7:n.1506C>G
ENST00000462862.1:c.542C>G	ENSP00000461322.1:n.542C>G
NM_005236.2:c.2229C>G , LRG_463t1:c.2229C>G	NP_005227.1:p.Ser743Arg
XM_011522424.1:c.2367C>G	XP_011520726.1:p.Ser789Arg
XM_011522425.1:c.1686C>G	XP_011520727.1:p.Ser562Arg
XM_011522426.1:c.1440C>G	XP_011520728.1:p.Ser480Arg
XM_011522427.1:c.879C>G	XP_011520729.1:p.Ser293Arg
XR_932805.1:n.2388C>G
XM_011522424.3:c.2367C>G	XP_011520726.1:p.Ser789Arg
XM_017023043.2:c.1440C>G	XP_016878532.1:p.Ser480Arg
NM_005236.3:c.2229C>G MANE Select	NP_005227.1:p.Ser743Arg