Canonical Allele Identifier: CA394823109

Gene: ERCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947934T>G , CM000678.2:g.13947934T>G	GRCh38
NC_000016.9:g.14041791T>G , CM000678.1:g.14041791T>G	GRCh37
NC_000016.8:g.13949292T>G	NCBI36
NG_011442.1:g.32778T>G , LRG_463:g.32778T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005236.3:c.2338T>G MANE Select	NP_005227.1:p.Ser780Ala
ENST00000311895.8:c.2338T>G MANE Select	ENSP00000310520.7:p.Ser780Ala
NM_005236.2:c.2338T>G , LRG_463t1:c.2338T>G	NP_005227.1:p.Ser780Ala
ENST00000311895.7:c.2338T>G	ENSP00000310520.7:p.Ser780Ala
ENST00000389138.7:n.1615T>G
ENST00000462862.1:c.651T>G	ENSP00000461322.1:n.651T>G
ENST00000682617.1:c.2476T>G	ENSP00000507912.1:p.Ser826Ala
ENST00000683962.1:c.*2032T>G	ENSP00000506854.1:n.*2032T>G
XM_011522424.1:c.2476T>G	XP_011520726.1:p.Ser826Ala
XM_011522424.3:c.2476T>G	XP_011520726.1:p.Ser826Ala
XM_011522425.1:c.1795T>G	XP_011520727.1:p.Ser599Ala
XM_011522426.1:c.1549T>G	XP_011520728.1:p.Ser517Ala
XM_011522427.1:c.988T>G	XP_011520729.1:p.Ser330Ala
XM_017023043.2:c.1549T>G	XP_016878532.1:p.Ser517Ala
XR_932805.1:n.2497T>G