Canonical Allele Identifier: CA394812480

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029497C>G (hg19) ; chr16:g.13935640C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935640C>G , CM000678.2:g.13935640C>G	GRCh38
NC_000016.9:g.14029497C>G , CM000678.1:g.14029497C>G	GRCh37
NC_000016.8:g.13936998C>G	NCBI36
NG_011442.1:g.20484C>G , LRG_463:g.20484C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1786C>G
ENST00000682617.1:c.1846C>G	ENSP00000507912.1:p.Leu616Val
ENST00000682826.1:c.*1022C>G	ENSP00000507274.1:n.*1022C>G
ENST00000682909.1:n.3748C>G
ENST00000683277.1:n.3353C>G
ENST00000683407.1:n.1716C>G
ENST00000683962.1:c.*1402C>G	ENSP00000506854.1:n.*1402C>G
ENST00000311895.8:c.1708C>G MANE Select	ENSP00000310520.7:p.Leu570Val
ENST00000311895.7:c.1708C>G	ENSP00000310520.7:p.Leu570Val
ENST00000389138.7:n.985C>G
NM_005236.2:c.1708C>G , LRG_463t1:c.1708C>G	NP_005227.1:p.Leu570Val
XM_011522424.1:c.1846C>G	XP_011520726.1:p.Leu616Val
XM_011522425.1:c.1165C>G	XP_011520727.1:p.Leu389Val
XM_011522426.1:c.919C>G	XP_011520728.1:p.Leu307Val
XM_011522427.1:c.358C>G	XP_011520729.1:p.Leu120Val
XR_932805.1:n.1867C>G
XM_011522424.3:c.1846C>G	XP_011520726.1:p.Leu616Val
XM_017023043.2:c.919C>G	XP_016878532.1:p.Leu307Val
NM_005236.3:c.1708C>G MANE Select	NP_005227.1:p.Leu570Val