Canonical Allele Identifier: CA394812445

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029481T>G (hg19) ; chr16:g.13935624T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935624T>G , CM000678.2:g.13935624T>G	GRCh38
NC_000016.9:g.14029481T>G , CM000678.1:g.14029481T>G	GRCh37
NC_000016.8:g.13936982T>G	NCBI36
NG_011442.1:g.20468T>G , LRG_463:g.20468T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1770T>G
ENST00000682617.1:c.1830T>G	ENSP00000507912.1:p.Tyr610Ter
ENST00000682826.1:c.*1006T>G	ENSP00000507274.1:n.*1006T>G
ENST00000682909.1:n.3732T>G
ENST00000683277.1:n.3337T>G
ENST00000683407.1:n.1700T>G
ENST00000683962.1:c.*1386T>G	ENSP00000506854.1:n.*1386T>G
ENST00000311895.8:c.1692T>G MANE Select	ENSP00000310520.7:p.Tyr564Ter
ENST00000311895.7:c.1692T>G	ENSP00000310520.7:p.Tyr564Ter
ENST00000389138.7:n.969T>G
NM_005236.2:c.1692T>G , LRG_463t1:c.1692T>G	NP_005227.1:p.Tyr564Ter
XM_011522424.1:c.1830T>G	XP_011520726.1:p.Tyr610Ter
XM_011522425.1:c.1149T>G	XP_011520727.1:p.Tyr383Ter
XM_011522426.1:c.903T>G	XP_011520728.1:p.Tyr301Ter
XM_011522427.1:c.342T>G	XP_011520729.1:p.Tyr114Ter
XR_932805.1:n.1851T>G
XM_011522424.3:c.1830T>G	XP_011520726.1:p.Tyr610Ter
XM_017023043.2:c.903T>G	XP_016878532.1:p.Tyr301Ter
NM_005236.3:c.1692T>G MANE Select	NP_005227.1:p.Tyr564Ter