Canonical Allele Identifier: CA394812475

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029494G>C (hg19) ; chr16:g.13935637G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935637G>C , CM000678.2:g.13935637G>C	GRCh38
NC_000016.9:g.14029494G>C , CM000678.1:g.14029494G>C	GRCh37
NC_000016.8:g.13936995G>C	NCBI36
NG_011442.1:g.20481G>C , LRG_463:g.20481G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1783G>C
ENST00000682617.1:c.1843G>C	ENSP00000507912.1:p.Val615Leu
ENST00000682826.1:c.*1019G>C	ENSP00000507274.1:n.*1019G>C
ENST00000682909.1:n.3745G>C
ENST00000683277.1:n.3350G>C
ENST00000683407.1:n.1713G>C
ENST00000683962.1:c.*1399G>C	ENSP00000506854.1:n.*1399G>C
ENST00000311895.8:c.1705G>C MANE Select	ENSP00000310520.7:p.Val569Leu
ENST00000311895.7:c.1705G>C	ENSP00000310520.7:p.Val569Leu
ENST00000389138.7:n.982G>C
NM_005236.2:c.1705G>C , LRG_463t1:c.1705G>C	NP_005227.1:p.Val569Leu
XM_011522424.1:c.1843G>C	XP_011520726.1:p.Val615Leu
XM_011522425.1:c.1162G>C	XP_011520727.1:p.Val388Leu
XM_011522426.1:c.916G>C	XP_011520728.1:p.Val306Leu
XM_011522427.1:c.355G>C	XP_011520729.1:p.Val119Leu
XR_932805.1:n.1864G>C
XM_011522424.3:c.1843G>C	XP_011520726.1:p.Val615Leu
XM_017023043.2:c.916G>C	XP_016878532.1:p.Val306Leu
NM_005236.3:c.1705G>C MANE Select	NP_005227.1:p.Val569Leu