Canonical Allele Identifier: CA278472004

Gene: ERCC4

Linked Data

• dbSNP Id: rs945864286
• gnomAD v2: 16-14029453-A-C
• gnomAD v4: 16-13935596-A-C
• MyVariant Identifiers: chr16:g.14029453A>C (hg19) ; chr16:g.13935596A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935596A>C , CM000678.2:g.13935596A>C	GRCh38
NC_000016.9:g.14029453A>C , CM000678.1:g.14029453A>C	GRCh37
NC_000016.8:g.13936954A>C	NCBI36
NG_011442.1:g.20440A>C , LRG_463:g.20440A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1742A>C
ENST00000682617.1:c.1802A>C	ENSP00000507912.1:p.His601Pro
ENST00000682826.1:c.*978A>C	ENSP00000507274.1:n.*978A>C
ENST00000682909.1:n.3704A>C
ENST00000683277.1:n.3309A>C
ENST00000683407.1:n.1672A>C
ENST00000683962.1:c.*1358A>C	ENSP00000506854.1:n.*1358A>C
ENST00000311895.8:c.1664A>C MANE Select	ENSP00000310520.7:p.His555Pro
ENST00000311895.7:c.1664A>C	ENSP00000310520.7:p.His555Pro
ENST00000389138.7:n.941A>C
NM_005236.2:c.1664A>C , LRG_463t1:c.1664A>C	NP_005227.1:p.His555Pro
XM_011522424.1:c.1802A>C	XP_011520726.1:p.His601Pro
XM_011522425.1:c.1121A>C	XP_011520727.1:p.His374Pro
XM_011522426.1:c.875A>C	XP_011520728.1:p.His292Pro
XM_011522427.1:c.314A>C	XP_011520729.1:p.His105Pro
XR_932805.1:n.1823A>C
XM_011522424.3:c.1802A>C	XP_011520726.1:p.His601Pro
XM_017023043.2:c.875A>C	XP_016878532.1:p.His292Pro
NM_005236.3:c.1664A>C MANE Select	NP_005227.1:p.His555Pro