Canonical Allele Identifier: CA493689521

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029484T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935627T>G , CM000678.2:g.13935627T>G	GRCh38
NC_000016.9:g.14029484T>G , CM000678.1:g.14029484T>G	GRCh37
NC_000016.8:g.13936985T>G	NCBI36
NG_011442.1:g.20471T>G , LRG_463:g.20471T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1773T>G
ENST00000682617.1:c.1833T>G	ENSP00000507912.1:p.Ala611=
ENST00000682826.1:c.*1009T>G	ENSP00000507274.1:n.*1009T>G
ENST00000682909.1:n.3735T>G
ENST00000683277.1:n.3340T>G
ENST00000683407.1:n.1703T>G
ENST00000683962.1:c.*1389T>G	ENSP00000506854.1:n.*1389T>G
ENST00000311895.8:c.1695T>G MANE Select	ENSP00000310520.7:p.Ala565=
ENST00000311895.7:c.1695T>G	ENSP00000310520.7:p.Ala565=
ENST00000389138.7:n.972T>G
NM_005236.2:c.1695T>G , LRG_463t1:c.1695T>G	NP_005227.1:p.Ala565=
XM_011522424.1:c.1833T>G	XP_011520726.1:p.Ala611=
XM_011522425.1:c.1152T>G	XP_011520727.1:p.Ala384=
XM_011522426.1:c.906T>G	XP_011520728.1:p.Ala302=
XM_011522427.1:c.345T>G	XP_011520729.1:p.Ala115=
XR_932805.1:n.1854T>G
XM_011522424.3:c.1833T>G	XP_011520726.1:p.Ala611=
XM_017023043.2:c.906T>G	XP_016878532.1:p.Ala302=
NM_005236.3:c.1695T>G MANE Select	NP_005227.1:p.Ala565=