Canonical Allele Identifier: CA10637026

Gene: ERCC4

Linked Data

• ClinVar Variation Id: 317814
• ClinVar RCV Id: RCV000396319
• dbSNP Id: rs886051665
• gnomAD v3: 16-13935579-A-C
• gnomAD v4: 16-13935579-A-C
• MyVariant Identifiers: chr16:g.14029436A>C (hg19) ; chr16:g.13935579A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935579A>C , CM000678.2:g.13935579A>C	GRCh38
NC_000016.9:g.14029436A>C , CM000678.1:g.14029436A>C	GRCh37
NC_000016.8:g.13936937A>C	NCBI36
NG_011442.1:g.20423A>C , LRG_463:g.20423A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1725A>C
ENST00000682617.1:c.1785A>C	ENSP00000507912.1:p.Glu595Asp
ENST00000682826.1:c.*961A>C	ENSP00000507274.1:n.*961A>C
ENST00000682909.1:n.3687A>C
ENST00000683277.1:n.3292A>C
ENST00000683407.1:n.1655A>C
ENST00000683962.1:c.*1341A>C	ENSP00000506854.1:n.*1341A>C
ENST00000311895.8:c.1647A>C MANE Select	ENSP00000310520.7:p.Glu549Asp
ENST00000311895.7:c.1647A>C	ENSP00000310520.7:p.Glu549Asp
ENST00000389138.7:n.924A>C
NM_005236.2:c.1647A>C , LRG_463t1:c.1647A>C	NP_005227.1:p.Glu549Asp
XM_011522424.1:c.1785A>C	XP_011520726.1:p.Glu595Asp
XM_011522425.1:c.1104A>C	XP_011520727.1:p.Glu368Asp
XM_011522426.1:c.858A>C	XP_011520728.1:p.Glu286Asp
XM_011522427.1:c.297A>C	XP_011520729.1:p.Glu99Asp
XR_932805.1:n.1806A>C
XM_011522424.3:c.1785A>C	XP_011520726.1:p.Glu595Asp
XM_017023043.2:c.858A>C	XP_016878532.1:p.Glu286Asp
NM_005236.3:c.1647A>C MANE Select	NP_005227.1:p.Glu549Asp