Canonical Allele Identifier: CA7910490

Gene: ERCC4

Linked Data

• dbSNP Id: rs374391979
• ExAC: 16:14029328 A / G
• gnomAD v2: 16-14029328-A-G
• gnomAD v3: 16-13935471-A-G
• gnomAD v4: 16-13935471-A-G
• MyVariant Identifiers: chr16:g.14029328A>G (hg19) ; chr16:g.13935471A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935471A>G , CM000678.2:g.13935471A>G	GRCh38
NC_000016.9:g.14029328A>G , CM000678.1:g.14029328A>G	GRCh37
NC_000016.8:g.13936829A>G	NCBI36
NG_011442.1:g.20315A>G , LRG_463:g.20315A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682568.1:n.1617A>G
ENST00000682617.1:c.1677A>G	ENSP00000507912.1:p.Gly559=
ENST00000682826.1:c.*853A>G	ENSP00000507274.1:n.*853A>G
ENST00000682909.1:n.3579A>G
ENST00000683277.1:n.3184A>G
ENST00000683407.1:n.1547A>G
ENST00000683962.1:c.*1233A>G	ENSP00000506854.1:n.*1233A>G
ENST00000311895.8:c.1539A>G MANE Select	ENSP00000310520.7:p.Gly513=
ENST00000311895.7:c.1539A>G	ENSP00000310520.7:p.Gly513=
ENST00000389138.7:n.816A>G
NM_005236.2:c.1539A>G , LRG_463t1:c.1539A>G	NP_005227.1:p.Gly513=
XM_011522424.1:c.1677A>G	XP_011520726.1:p.Gly559=
XM_011522425.1:c.996A>G	XP_011520727.1:p.Gly332=
XM_011522426.1:c.750A>G	XP_011520728.1:p.Gly250=
XM_011522427.1:c.189A>G	XP_011520729.1:p.Gly63=
XR_932805.1:n.1698A>G
XM_011522424.3:c.1677A>G	XP_011520726.1:p.Gly559=
XM_017023043.2:c.750A>G	XP_016878532.1:p.Gly250=
NM_005236.3:c.1539A>G MANE Select	NP_005227.1:p.Gly513=