Canonical Allele Identifier: CA16622080

Gene: ERCC4

Linked Data

• dbSNP Id: rs1171775386
• gnomAD v2: 16-14029335-C-G
• gnomAD v4: 16-13935478-C-G
• MyVariant Identifiers: chr16:g.14029335C>G (hg19) ; chr16:g.13935478C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935478C>G , CM000678.2:g.13935478C>G	GRCh38
NC_000016.9:g.14029335C>G , CM000678.1:g.14029335C>G	GRCh37
NC_000016.8:g.13936836C>G	NCBI36
NG_011442.1:g.20322C>G , LRG_463:g.20322C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1624C>G
ENST00000682617.1:c.1684C>G	ENSP00000507912.1:p.Arg562Gly
ENST00000682826.1:c.*860C>G	ENSP00000507274.1:n.*860C>G
ENST00000682909.1:n.3586C>G
ENST00000683277.1:n.3191C>G
ENST00000683407.1:n.1554C>G
ENST00000683962.1:c.*1240C>G	ENSP00000506854.1:n.*1240C>G
ENST00000311895.8:c.1546C>G MANE Select	ENSP00000310520.7:p.Arg516Gly
ENST00000311895.7:c.1546C>G	ENSP00000310520.7:p.Arg516Gly
ENST00000389138.7:n.823C>G
NM_005236.2:c.1546C>G , LRG_463t1:c.1546C>G	NP_005227.1:p.Arg516Gly
XM_011522424.1:c.1684C>G	XP_011520726.1:p.Arg562Gly
XM_011522425.1:c.1003C>G	XP_011520727.1:p.Arg335Gly
XM_011522426.1:c.757C>G	XP_011520728.1:p.Arg253Gly
XM_011522427.1:c.196C>G	XP_011520729.1:p.Arg66Gly
XR_932805.1:n.1705C>G
XM_011522424.3:c.1684C>G	XP_011520726.1:p.Arg562Gly
XM_017023043.2:c.757C>G	XP_016878532.1:p.Arg253Gly
NM_005236.3:c.1546C>G MANE Select	NP_005227.1:p.Arg516Gly