Canonical Allele Identifier: CA394812634

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14029548T>C (hg19) ; chr16:g.13935691T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935691T>C , CM000678.2:g.13935691T>C	GRCh38
NC_000016.9:g.14029548T>C , CM000678.1:g.14029548T>C	GRCh37
NC_000016.8:g.13937049T>C	NCBI36
NG_011442.1:g.20535T>C , LRG_463:g.20535T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1837T>C
ENST00000682617.1:c.1897T>C	ENSP00000507912.1:p.Phe633Leu
ENST00000682826.1:c.*1073T>C	ENSP00000507274.1:n.*1073T>C
ENST00000682909.1:n.3799T>C
ENST00000683277.1:n.3404T>C
ENST00000683407.1:n.1767T>C
ENST00000683962.1:c.*1453T>C	ENSP00000506854.1:n.*1453T>C
ENST00000311895.8:c.1759T>C MANE Select	ENSP00000310520.7:p.Phe587Leu
ENST00000311895.7:c.1759T>C	ENSP00000310520.7:p.Phe587Leu
ENST00000389138.7:n.1036T>C
NM_005236.2:c.1759T>C , LRG_463t1:c.1759T>C	NP_005227.1:p.Phe587Leu
XM_011522424.1:c.1897T>C	XP_011520726.1:p.Phe633Leu
XM_011522425.1:c.1216T>C	XP_011520727.1:p.Phe406Leu
XM_011522426.1:c.970T>C	XP_011520728.1:p.Phe324Leu
XM_011522427.1:c.409T>C	XP_011520729.1:p.Phe137Leu
XR_932805.1:n.1918T>C
XM_011522424.3:c.1897T>C	XP_011520726.1:p.Phe633Leu
XM_017023043.2:c.970T>C	XP_016878532.1:p.Phe324Leu
NM_005236.3:c.1759T>C MANE Select	NP_005227.1:p.Phe587Leu