Canonical Allele Identifier: CA394811569

Gene: ERCC4

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935493A>C , CM000678.2:g.13935493A>C	GRCh38
NC_000016.9:g.14029350A>C , CM000678.1:g.14029350A>C	GRCh37
NC_000016.8:g.13936851A>C	NCBI36
NG_011442.1:g.20337A>C , LRG_463:g.20337A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1639A>C
ENST00000682617.1:c.1699A>C	ENSP00000507912.1:p.Ser567Arg
ENST00000682826.1:c.*875A>C	ENSP00000507274.1:n.*875A>C
ENST00000682909.1:n.3601A>C
ENST00000683277.1:n.3206A>C
ENST00000683407.1:n.1569A>C
ENST00000683962.1:c.*1255A>C	ENSP00000506854.1:n.*1255A>C
ENST00000311895.8:c.1561A>C MANE Select	ENSP00000310520.7:p.Ser521Arg
ENST00000311895.7:c.1561A>C	ENSP00000310520.7:p.Ser521Arg
ENST00000389138.7:n.838A>C
NM_005236.2:c.1561A>C , LRG_463t1:c.1561A>C	NP_005227.1:p.Ser521Arg
XM_011522424.1:c.1699A>C	XP_011520726.1:p.Ser567Arg
XM_011522425.1:c.1018A>C	XP_011520727.1:p.Ser340Arg
XM_011522426.1:c.772A>C	XP_011520728.1:p.Ser258Arg
XM_011522427.1:c.211A>C	XP_011520729.1:p.Ser71Arg
XR_932805.1:n.1720A>C
XM_011522424.3:c.1699A>C	XP_011520726.1:p.Ser567Arg
XM_017023043.2:c.772A>C	XP_016878532.1:p.Ser258Arg
NM_005236.3:c.1561A>C MANE Select	NP_005227.1:p.Ser521Arg