Canonical Allele Identifier: CA394812387

Gene: ERCC4

Linked Data

• dbSNP Id: rs2141607954
• MyVariant Identifiers: chr16:g.14029472C>A (hg19) ; chr16:g.13935615C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935615C>A , CM000678.2:g.13935615C>A	GRCh38
NC_000016.9:g.14029472C>A , CM000678.1:g.14029472C>A	GRCh37
NC_000016.8:g.13936973C>A	NCBI36
NG_011442.1:g.20459C>A , LRG_463:g.20459C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1761C>A
ENST00000682617.1:c.1821C>A	ENSP00000507912.1:p.Ser607Arg
ENST00000682826.1:c.*997C>A	ENSP00000507274.1:n.*997C>A
ENST00000682909.1:n.3723C>A
ENST00000683277.1:n.3328C>A
ENST00000683407.1:n.1691C>A
ENST00000683962.1:c.*1377C>A	ENSP00000506854.1:n.*1377C>A
ENST00000311895.8:c.1683C>A MANE Select	ENSP00000310520.7:p.Ser561Arg
ENST00000311895.7:c.1683C>A	ENSP00000310520.7:p.Ser561Arg
ENST00000389138.7:n.960C>A
NM_005236.2:c.1683C>A , LRG_463t1:c.1683C>A	NP_005227.1:p.Ser561Arg
XM_011522424.1:c.1821C>A	XP_011520726.1:p.Ser607Arg
XM_011522425.1:c.1140C>A	XP_011520727.1:p.Ser380Arg
XM_011522426.1:c.894C>A	XP_011520728.1:p.Ser298Arg
XM_011522427.1:c.333C>A	XP_011520729.1:p.Ser111Arg
XR_932805.1:n.1842C>A
XM_011522424.3:c.1821C>A	XP_011520726.1:p.Ser607Arg
XM_017023043.2:c.894C>A	XP_016878532.1:p.Ser298Arg
NM_005236.3:c.1683C>A MANE Select	NP_005227.1:p.Ser561Arg