Canonical Allele Identifier: CA7910741

Gene: ERCC4

Linked Data

• dbSNP Id: rs766573225
• ExAC: 16:14041896 G / C
• gnomAD v2: 16-14041896-G-C
• MyVariant Identifiers: chr16:g.14041896G>C (hg19) ; chr16:g.13948039G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948039G>C , CM000678.2:g.13948039G>C	GRCh38
NC_000016.9:g.14041896G>C , CM000678.1:g.14041896G>C	GRCh37
NC_000016.8:g.13949397G>C	NCBI36
NG_011442.1:g.32883G>C , LRG_463:g.32883G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2581G>C	ENSP00000507912.1:p.Glu861Gln
ENST00000683962.1:c.*2137G>C	ENSP00000506854.1:n.*2137G>C
ENST00000311895.8:c.2443G>C MANE Select	ENSP00000310520.7:p.Glu815Gln
ENST00000311895.7:c.2443G>C	ENSP00000310520.7:p.Glu815Gln
ENST00000389138.7:n.1720G>C
NM_005236.2:c.2443G>C , LRG_463t1:c.2443G>C	NP_005227.1:p.Glu815Gln
XM_011522424.1:c.2581G>C	XP_011520726.1:p.Glu861Gln
XM_011522425.1:c.1900G>C	XP_011520727.1:p.Glu634Gln
XM_011522426.1:c.1654G>C	XP_011520728.1:p.Glu552Gln
XM_011522427.1:c.1093G>C	XP_011520729.1:p.Glu365Gln
XR_932805.1:n.2602G>C
XM_011522424.3:c.2581G>C	XP_011520726.1:p.Glu861Gln
XM_017023043.2:c.1654G>C	XP_016878532.1:p.Glu552Gln
NM_005236.3:c.2443G>C MANE Select	NP_005227.1:p.Glu815Gln