Canonical Allele Identifier: CA7910524

Gene: ERCC4

Linked Data

• dbSNP Id: rs765454246
• ExAC: 16:14029517 A / G
• gnomAD v2: 16-14029517-A-G
• MyVariant Identifiers: chr16:g.14029517A>G (hg19) ; chr16:g.13935660A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935660A>G , CM000678.2:g.13935660A>G	GRCh38
NC_000016.9:g.14029517A>G , CM000678.1:g.14029517A>G	GRCh37
NC_000016.8:g.13937018A>G	NCBI36
NG_011442.1:g.20504A>G , LRG_463:g.20504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1806A>G
ENST00000682617.1:c.1866A>G	ENSP00000507912.1:p.Arg622=
ENST00000682826.1:c.*1042A>G	ENSP00000507274.1:n.*1042A>G
ENST00000682909.1:n.3768A>G
ENST00000683277.1:n.3373A>G
ENST00000683407.1:n.1736A>G
ENST00000683962.1:c.*1422A>G	ENSP00000506854.1:n.*1422A>G
ENST00000311895.8:c.1728A>G MANE Select	ENSP00000310520.7:p.Arg576=
ENST00000311895.7:c.1728A>G	ENSP00000310520.7:p.Arg576=
ENST00000389138.7:n.1005A>G
NM_005236.2:c.1728A>G , LRG_463t1:c.1728A>G	NP_005227.1:p.Arg576=
XM_011522424.1:c.1866A>G	XP_011520726.1:p.Arg622=
XM_011522425.1:c.1185A>G	XP_011520727.1:p.Arg395=
XM_011522426.1:c.939A>G	XP_011520728.1:p.Arg313=
XM_011522427.1:c.378A>G	XP_011520729.1:p.Arg126=
XR_932805.1:n.1887A>G
XM_011522424.3:c.1866A>G	XP_011520726.1:p.Arg622=
XM_017023043.2:c.939A>G	XP_016878532.1:p.Arg313=
NM_005236.3:c.1728A>G MANE Select	NP_005227.1:p.Arg576=