Canonical Allele Identifier: CA394812728

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029571C>A (hg19) ; chr16:g.13935714C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935714C>A , CM000678.2:g.13935714C>A	GRCh38
NC_000016.9:g.14029571C>A , CM000678.1:g.14029571C>A	GRCh37
NC_000016.8:g.13937072C>A	NCBI36
NG_011442.1:g.20558C>A , LRG_463:g.20558C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1860C>A
ENST00000682617.1:c.1920C>A	ENSP00000507912.1:p.Tyr640Ter
ENST00000682826.1:c.*1096C>A	ENSP00000507274.1:n.*1096C>A
ENST00000682909.1:n.3822C>A
ENST00000683277.1:n.3427C>A
ENST00000683407.1:n.1790C>A
ENST00000683962.1:c.*1476C>A	ENSP00000506854.1:n.*1476C>A
ENST00000311895.8:c.1782C>A MANE Select	ENSP00000310520.7:p.Tyr594Ter
ENST00000311895.7:c.1782C>A	ENSP00000310520.7:p.Tyr594Ter
ENST00000389138.7:n.1059C>A
NM_005236.2:c.1782C>A , LRG_463t1:c.1782C>A	NP_005227.1:p.Tyr594Ter
XM_011522424.1:c.1920C>A	XP_011520726.1:p.Tyr640Ter
XM_011522425.1:c.1239C>A	XP_011520727.1:p.Tyr413Ter
XM_011522426.1:c.993C>A	XP_011520728.1:p.Tyr331Ter
XM_011522427.1:c.432C>A	XP_011520729.1:p.Tyr144Ter
XR_932805.1:n.1941C>A
XM_011522424.3:c.1920C>A	XP_011520726.1:p.Tyr640Ter
XM_017023043.2:c.993C>A	XP_016878532.1:p.Tyr331Ter
NM_005236.3:c.1782C>A MANE Select	NP_005227.1:p.Tyr594Ter