Canonical Allele Identifier: CA394823534

Gene: ERCC4

Linked Data

• dbSNP Id: rs1210554526
• gnomAD v2: 16-14041860-T-A
• gnomAD v4: 16-13948003-T-A
• MyVariant Identifiers: chr16:g.14041860T>A (hg19) ; chr16:g.13948003T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948003T>A , CM000678.2:g.13948003T>A	GRCh38
NC_000016.9:g.14041860T>A , CM000678.1:g.14041860T>A	GRCh37
NC_000016.8:g.13949361T>A	NCBI36
NG_011442.1:g.32847T>A , LRG_463:g.32847T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2545T>A	ENSP00000507912.1:p.Cys849Ser
ENST00000683962.1:c.*2101T>A	ENSP00000506854.1:n.*2101T>A
ENST00000311895.8:c.2407T>A MANE Select	ENSP00000310520.7:p.Cys803Ser
ENST00000311895.7:c.2407T>A	ENSP00000310520.7:p.Cys803Ser
ENST00000389138.7:n.1684T>A
ENST00000462862.1:c.720T>A	ENSP00000461322.1:n.720T>A
NM_005236.2:c.2407T>A , LRG_463t1:c.2407T>A	NP_005227.1:p.Cys803Ser
XM_011522424.1:c.2545T>A	XP_011520726.1:p.Cys849Ser
XM_011522425.1:c.1864T>A	XP_011520727.1:p.Cys622Ser
XM_011522426.1:c.1618T>A	XP_011520728.1:p.Cys540Ser
XM_011522427.1:c.1057T>A	XP_011520729.1:p.Cys353Ser
XR_932805.1:n.2566T>A
XM_011522424.3:c.2545T>A	XP_011520726.1:p.Cys849Ser
XM_017023043.2:c.1618T>A	XP_016878532.1:p.Cys540Ser
NM_005236.3:c.2407T>A MANE Select	NP_005227.1:p.Cys803Ser