Canonical Allele Identifier: CA7910496
Gene: ERCC4 HGNC NCBI
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935495C>A , CM000678.2:g.13935495C>A GRCh38
NC_000016.9:g.14029352C>A , CM000678.1:g.14029352C>A GRCh37
NC_000016.8:g.13936853C>A NCBI36
NG_011442.1:g.20339C>A , LRG_463:g.20339C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1641C>A
ENST00000682617.1:c.1701C>A ENSP00000507912.1:p.Ser567Arg
ENST00000682826.1:c.*877C>A ENSP00000507274.1:n.*877C>A
ENST00000682909.1:n.3603C>A
ENST00000683277.1:n.3208C>A
ENST00000683407.1:n.1571C>A
ENST00000683962.1:c.*1257C>A ENSP00000506854.1:n.*1257C>A
ENST00000311895.8:c.1563C>A MANE Select ENSP00000310520.7:p.Ser521Arg
ENST00000311895.7:c.1563C>A ENSP00000310520.7:p.Ser521Arg
ENST00000389138.7:n.840C>A
NM_005236.2:c.1563C>A , LRG_463t1:c.1563C>A NP_005227.1:p.Ser521Arg
XM_011522424.1:c.1701C>A XP_011520726.1:p.Ser567Arg
XM_011522425.1:c.1020C>A XP_011520727.1:p.Ser340Arg
XM_011522426.1:c.774C>A XP_011520728.1:p.Ser258Arg
XM_011522427.1:c.213C>A XP_011520729.1:p.Ser71Arg
XR_932805.1:n.1722C>A
XM_011522424.3:c.1701C>A XP_011520726.1:p.Ser567Arg
XM_017023043.2:c.774C>A XP_016878532.1:p.Ser258Arg
NM_005236.3:c.1563C>A MANE Select NP_005227.1:p.Ser521Arg