Canonical Allele Identifier: CA7910481

Gene: ERCC4

Linked Data

• dbSNP Id: rs777944273
• ExAC: 16:14029289 A / C
• gnomAD v2: 16-14029289-A-C
• gnomAD v4: 16-13935432-A-C
• MyVariant Identifiers: chr16:g.14029289A>C (hg19) ; chr16:g.13935432A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935432A>C , CM000678.2:g.13935432A>C	GRCh38
NC_000016.9:g.14029289A>C , CM000678.1:g.14029289A>C	GRCh37
NC_000016.8:g.13936790A>C	NCBI36
NG_011442.1:g.20276A>C , LRG_463:g.20276A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1578A>C
ENST00000682617.1:c.1638A>C	ENSP00000507912.1:p.Lys546Asn
ENST00000682826.1:c.*814A>C	ENSP00000507274.1:n.*814A>C
ENST00000682909.1:n.3540A>C
ENST00000683277.1:n.3145A>C
ENST00000683407.1:n.1508A>C
ENST00000683962.1:c.*1194A>C	ENSP00000506854.1:n.*1194A>C
ENST00000311895.8:c.1500A>C MANE Select	ENSP00000310520.7:p.Lys500Asn
ENST00000311895.7:c.1500A>C	ENSP00000310520.7:p.Lys500Asn
ENST00000389138.7:n.777A>C
NM_005236.2:c.1500A>C , LRG_463t1:c.1500A>C	NP_005227.1:p.Lys500Asn
XM_011522424.1:c.1638A>C	XP_011520726.1:p.Lys546Asn
XM_011522425.1:c.957A>C	XP_011520727.1:p.Lys319Asn
XM_011522426.1:c.711A>C	XP_011520728.1:p.Lys237Asn
XM_011522427.1:c.150A>C	XP_011520729.1:p.Lys50Asn
XR_932805.1:n.1659A>C
XM_011522424.3:c.1638A>C	XP_011520726.1:p.Lys546Asn
XM_017023043.2:c.711A>C	XP_016878532.1:p.Lys237Asn
NM_005236.3:c.1500A>C MANE Select	NP_005227.1:p.Lys500Asn