Canonical Allele Identifier: CA7910619

Gene: ERCC4

Linked Data

• dbSNP Id: rs759544889
• ExAC: 16:14038613 A / G
• gnomAD v2: 16-14038613-A-G
• gnomAD v4: 16-13944756-A-G
• MyVariant Identifiers: chr16:g.14038613A>G (hg19) ; chr16:g.13944756A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13944756A>G , CM000678.2:g.13944756A>G	GRCh38
NC_000016.9:g.14038613A>G , CM000678.1:g.14038613A>G	GRCh37
NC_000016.8:g.13946114A>G	NCBI36
NG_011442.1:g.29600A>G , LRG_463:g.29600A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2076A>G	ENSP00000507912.1:p.Arg692=
ENST00000683962.1:c.*1632A>G	ENSP00000506854.1:n.*1632A>G
ENST00000311895.8:c.1938A>G MANE Select	ENSP00000310520.7:p.Arg646=
ENST00000311895.7:c.1938A>G	ENSP00000310520.7:p.Arg646=
ENST00000389138.7:n.1215A>G
ENST00000462862.1:c.251A>G	ENSP00000461322.1:n.251A>G
NM_005236.2:c.1938A>G , LRG_463t1:c.1938A>G	NP_005227.1:p.Arg646=
XM_011522424.1:c.2076A>G	XP_011520726.1:p.Arg692=
XM_011522425.1:c.1395A>G	XP_011520727.1:p.Arg465=
XM_011522426.1:c.1149A>G	XP_011520728.1:p.Arg383=
XM_011522427.1:c.588A>G	XP_011520729.1:p.Arg196=
XR_932805.1:n.2097A>G
XM_011522424.3:c.2076A>G	XP_011520726.1:p.Arg692=
XM_017023043.2:c.1149A>G	XP_016878532.1:p.Arg383=
NM_005236.3:c.1938A>G MANE Select	NP_005227.1:p.Arg646=