Canonical Allele Identifier: CA394824657

Gene: ERCC4

Linked Data

• MyVariant Identifiers: chr16:g.14042080T>C (hg19) ; chr16:g.13948223T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948223T>C , CM000678.2:g.13948223T>C	GRCh38
NC_000016.9:g.14042080T>C , CM000678.1:g.14042080T>C	GRCh37
NC_000016.8:g.13949581T>C	NCBI36
NG_011442.1:g.33067T>C , LRG_463:g.33067T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682617.1:c.2765T>C	ENSP00000507912.1:p.Leu922Ser
ENST00000683962.1:c.*2321T>C	ENSP00000506854.1:n.*2321T>C
ENST00000311895.8:c.2627T>C MANE Select	ENSP00000310520.7:p.Leu876Ser
ENST00000311895.7:c.2627T>C	ENSP00000310520.7:p.Leu876Ser
ENST00000389138.7:n.1904T>C
NM_005236.2:c.2627T>C , LRG_463t1:c.2627T>C	NP_005227.1:p.Leu876Ser
XM_011522424.1:c.2765T>C	XP_011520726.1:p.Leu922Ser
XM_011522425.1:c.2084T>C	XP_011520727.1:p.Leu695Ser
XM_011522426.1:c.1838T>C	XP_011520728.1:p.Leu613Ser
XM_011522427.1:c.1277T>C	XP_011520729.1:p.Leu426Ser
XR_932805.1:n.2786T>C
XM_011522424.3:c.2765T>C	XP_011520726.1:p.Leu922Ser
XM_017023043.2:c.1838T>C	XP_016878532.1:p.Leu613Ser
NM_005236.3:c.2627T>C MANE Select	NP_005227.1:p.Leu876Ser