Canonical Allele Identifier: CA394824539

Gene: ERCC4

Linked Data

• dbSNP Id: rs1485864399
• gnomAD v2: 16-14042052-A-G
• gnomAD v4: 16-13948195-A-G
• MyVariant Identifiers: chr16:g.14042052A>G (hg19) ; chr16:g.13948195A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13948195A>G , CM000678.2:g.13948195A>G	GRCh38
NC_000016.9:g.14042052A>G , CM000678.1:g.14042052A>G	GRCh37
NC_000016.8:g.13949553A>G	NCBI36
NG_011442.1:g.33039A>G , LRG_463:g.33039A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2737A>G	ENSP00000507912.1:p.Met913Val
ENST00000683962.1:c.*2293A>G	ENSP00000506854.1:n.*2293A>G
ENST00000311895.8:c.2599A>G MANE Select	ENSP00000310520.7:p.Met867Val
ENST00000311895.7:c.2599A>G	ENSP00000310520.7:p.Met867Val
ENST00000389138.7:n.1876A>G
NM_005236.2:c.2599A>G , LRG_463t1:c.2599A>G	NP_005227.1:p.Met867Val
XM_011522424.1:c.2737A>G	XP_011520726.1:p.Met913Val
XM_011522425.1:c.2056A>G	XP_011520727.1:p.Met686Val
XM_011522426.1:c.1810A>G	XP_011520728.1:p.Met604Val
XM_011522427.1:c.1249A>G	XP_011520729.1:p.Met417Val
XR_932805.1:n.2758A>G
XM_011522424.3:c.2737A>G	XP_011520726.1:p.Met913Val
XM_017023043.2:c.1810A>G	XP_016878532.1:p.Met604Val
NM_005236.3:c.2599A>G MANE Select	NP_005227.1:p.Met867Val