Canonical Allele Identifier: CA493689834

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935492-T-C
• MyVariant Identifiers: chr16:g.14029349T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935492T>C , CM000678.2:g.13935492T>C	GRCh38
NC_000016.9:g.14029349T>C , CM000678.1:g.14029349T>C	GRCh37
NC_000016.8:g.13936850T>C	NCBI36
NG_011442.1:g.20336T>C , LRG_463:g.20336T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1638T>C
ENST00000682617.1:c.1698T>C	ENSP00000507912.1:p.Ser566=
ENST00000682826.1:c.*874T>C	ENSP00000507274.1:n.*874T>C
ENST00000682909.1:n.3600T>C
ENST00000683277.1:n.3205T>C
ENST00000683407.1:n.1568T>C
ENST00000683962.1:c.*1254T>C	ENSP00000506854.1:n.*1254T>C
ENST00000311895.8:c.1560T>C MANE Select	ENSP00000310520.7:p.Ser520=
ENST00000311895.7:c.1560T>C	ENSP00000310520.7:p.Ser520=
ENST00000389138.7:n.837T>C
NM_005236.2:c.1560T>C , LRG_463t1:c.1560T>C	NP_005227.1:p.Ser520=
XM_011522424.1:c.1698T>C	XP_011520726.1:p.Ser566=
XM_011522425.1:c.1017T>C	XP_011520727.1:p.Ser339=
XM_011522426.1:c.771T>C	XP_011520728.1:p.Ser257=
XM_011522427.1:c.210T>C	XP_011520729.1:p.Ser70=
XR_932805.1:n.1719T>C
XM_011522424.3:c.1698T>C	XP_011520726.1:p.Ser566=
XM_017023043.2:c.771T>C	XP_016878532.1:p.Ser257=
NM_005236.3:c.1560T>C MANE Select	NP_005227.1:p.Ser520=