Canonical Allele Identifier: CA493689878

Gene: ERCC4

Linked Data

• dbSNP Id: rs1431588504
• gnomAD v2: 16-14029433-A-G
• gnomAD v4: 16-13935576-A-G
• MyVariant Identifiers: chr16:g.14029433A>G (hg19) ; chr16:g.13935576A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935576A>G , CM000678.2:g.13935576A>G	GRCh38
NC_000016.9:g.14029433A>G , CM000678.1:g.14029433A>G	GRCh37
NC_000016.8:g.13936934A>G	NCBI36
NG_011442.1:g.20420A>G , LRG_463:g.20420A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1722A>G
ENST00000682617.1:c.1782A>G	ENSP00000507912.1:p.Lys594=
ENST00000682826.1:c.*958A>G	ENSP00000507274.1:n.*958A>G
ENST00000682909.1:n.3684A>G
ENST00000683277.1:n.3289A>G
ENST00000683407.1:n.1652A>G
ENST00000683962.1:c.*1338A>G	ENSP00000506854.1:n.*1338A>G
ENST00000311895.8:c.1644A>G MANE Select	ENSP00000310520.7:p.Lys548=
ENST00000311895.7:c.1644A>G	ENSP00000310520.7:p.Lys548=
ENST00000389138.7:n.921A>G
NM_005236.2:c.1644A>G , LRG_463t1:c.1644A>G	NP_005227.1:p.Lys548=
XM_011522424.1:c.1782A>G	XP_011520726.1:p.Lys594=
XM_011522425.1:c.1101A>G	XP_011520727.1:p.Lys367=
XM_011522426.1:c.855A>G	XP_011520728.1:p.Lys285=
XM_011522427.1:c.294A>G	XP_011520729.1:p.Lys98=
XR_932805.1:n.1803A>G
XM_011522424.3:c.1782A>G	XP_011520726.1:p.Lys594=
XM_017023043.2:c.855A>G	XP_016878532.1:p.Lys285=
NM_005236.3:c.1644A>G MANE Select	NP_005227.1:p.Lys548=