Canonical Allele Identifier: CA394822694

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14041698T>G (hg19) ; chr16:g.13947841T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947841T>G , CM000678.2:g.13947841T>G	GRCh38
NC_000016.9:g.14041698T>G , CM000678.1:g.14041698T>G	GRCh37
NC_000016.8:g.13949199T>G	NCBI36
NG_011442.1:g.32685T>G , LRG_463:g.32685T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2383T>G	ENSP00000507912.1:p.Ser795Ala
ENST00000683962.1:c.*1939T>G	ENSP00000506854.1:n.*1939T>G
ENST00000311895.8:c.2245T>G MANE Select	ENSP00000310520.7:p.Ser749Ala
ENST00000311895.7:c.2245T>G	ENSP00000310520.7:p.Ser749Ala
ENST00000389138.7:n.1522T>G
ENST00000462862.1:c.558T>G	ENSP00000461322.1:n.558T>G
NM_005236.2:c.2245T>G , LRG_463t1:c.2245T>G	NP_005227.1:p.Ser749Ala
XM_011522424.1:c.2383T>G	XP_011520726.1:p.Ser795Ala
XM_011522425.1:c.1702T>G	XP_011520727.1:p.Ser568Ala
XM_011522426.1:c.1456T>G	XP_011520728.1:p.Ser486Ala
XM_011522427.1:c.895T>G	XP_011520729.1:p.Ser299Ala
XR_932805.1:n.2404T>G
XM_011522424.3:c.2383T>G	XP_011520726.1:p.Ser795Ala
XM_017023043.2:c.1456T>G	XP_016878532.1:p.Ser486Ala
NM_005236.3:c.2245T>G MANE Select	NP_005227.1:p.Ser749Ala