Canonical Allele Identifier: CA394812013

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029412T>G (hg19) ; chr16:g.13935555T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935555T>G , CM000678.2:g.13935555T>G	GRCh38
NC_000016.9:g.14029412T>G , CM000678.1:g.14029412T>G	GRCh37
NC_000016.8:g.13936913T>G	NCBI36
NG_011442.1:g.20399T>G , LRG_463:g.20399T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1701T>G
ENST00000682617.1:c.1761T>G	ENSP00000507912.1:p.Asp587Glu
ENST00000682826.1:c.*937T>G	ENSP00000507274.1:n.*937T>G
ENST00000682909.1:n.3663T>G
ENST00000683277.1:n.3268T>G
ENST00000683407.1:n.1631T>G
ENST00000683962.1:c.*1317T>G	ENSP00000506854.1:n.*1317T>G
ENST00000311895.8:c.1623T>G MANE Select	ENSP00000310520.7:p.Asp541Glu
ENST00000311895.7:c.1623T>G	ENSP00000310520.7:p.Asp541Glu
ENST00000389138.7:n.900T>G
NM_005236.2:c.1623T>G , LRG_463t1:c.1623T>G	NP_005227.1:p.Asp541Glu
XM_011522424.1:c.1761T>G	XP_011520726.1:p.Asp587Glu
XM_011522425.1:c.1080T>G	XP_011520727.1:p.Asp360Glu
XM_011522426.1:c.834T>G	XP_011520728.1:p.Asp278Glu
XM_011522427.1:c.273T>G	XP_011520729.1:p.Asp91Glu
XR_932805.1:n.1782T>G
XM_011522424.3:c.1761T>G	XP_011520726.1:p.Asp587Glu
XM_017023043.2:c.834T>G	XP_016878532.1:p.Asp278Glu
NM_005236.3:c.1623T>G MANE Select	NP_005227.1:p.Asp541Glu