Canonical Allele Identifier: CA394824491

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032559798
• gnomAD v4: 16-13948172-A-G
• MyVariant Identifiers: chr16:g.14042029A>G (hg19) ; chr16:g.13948172A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948172A>G , CM000678.2:g.13948172A>G	GRCh38
NC_000016.9:g.14042029A>G , CM000678.1:g.14042029A>G	GRCh37
NC_000016.8:g.13949530A>G	NCBI36
NG_011442.1:g.33016A>G , LRG_463:g.33016A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2714A>G	ENSP00000507912.1:p.Asn905Ser
ENST00000683962.1:c.*2270A>G	ENSP00000506854.1:n.*2270A>G
ENST00000311895.8:c.2576A>G MANE Select	ENSP00000310520.7:p.Asn859Ser
ENST00000311895.7:c.2576A>G	ENSP00000310520.7:p.Asn859Ser
ENST00000389138.7:n.1853A>G
NM_005236.2:c.2576A>G , LRG_463t1:c.2576A>G	NP_005227.1:p.Asn859Ser
XM_011522424.1:c.2714A>G	XP_011520726.1:p.Asn905Ser
XM_011522425.1:c.2033A>G	XP_011520727.1:p.Asn678Ser
XM_011522426.1:c.1787A>G	XP_011520728.1:p.Asn596Ser
XM_011522427.1:c.1226A>G	XP_011520729.1:p.Asn409Ser
XR_932805.1:n.2735A>G
XM_011522424.3:c.2714A>G	XP_011520726.1:p.Asn905Ser
XM_017023043.2:c.1787A>G	XP_016878532.1:p.Asn596Ser
NM_005236.3:c.2576A>G MANE Select	NP_005227.1:p.Asn859Ser