Canonical Allele Identifier: CA394812536

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029522T>G (hg19) ; chr16:g.13935665T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935665T>G , CM000678.2:g.13935665T>G	GRCh38
NC_000016.9:g.14029522T>G , CM000678.1:g.14029522T>G	GRCh37
NC_000016.8:g.13937023T>G	NCBI36
NG_011442.1:g.20509T>G , LRG_463:g.20509T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1811T>G
ENST00000682617.1:c.1871T>G	ENSP00000507912.1:p.Val624Gly
ENST00000682826.1:c.*1047T>G	ENSP00000507274.1:n.*1047T>G
ENST00000682909.1:n.3773T>G
ENST00000683277.1:n.3378T>G
ENST00000683407.1:n.1741T>G
ENST00000683962.1:c.*1427T>G	ENSP00000506854.1:n.*1427T>G
ENST00000311895.8:c.1733T>G MANE Select	ENSP00000310520.7:p.Val578Gly
ENST00000311895.7:c.1733T>G	ENSP00000310520.7:p.Val578Gly
ENST00000389138.7:n.1010T>G
NM_005236.2:c.1733T>G , LRG_463t1:c.1733T>G	NP_005227.1:p.Val578Gly
XM_011522424.1:c.1871T>G	XP_011520726.1:p.Val624Gly
XM_011522425.1:c.1190T>G	XP_011520727.1:p.Val397Gly
XM_011522426.1:c.944T>G	XP_011520728.1:p.Val315Gly
XM_011522427.1:c.383T>G	XP_011520729.1:p.Val128Gly
XR_932805.1:n.1892T>G
XM_011522424.3:c.1871T>G	XP_011520726.1:p.Val624Gly
XM_017023043.2:c.944T>G	XP_016878532.1:p.Val315Gly
NM_005236.3:c.1733T>G MANE Select	NP_005227.1:p.Val578Gly