Canonical Allele Identifier: CA394822873

Gene: ERCC4

Linked Data

• dbSNP Id: rs1231082439
• gnomAD v2: 16-14041746-A-G
• gnomAD v4: 16-13947889-A-G
• MyVariant Identifiers: chr16:g.14041746A>G (hg19) ; chr16:g.13947889A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947889A>G , CM000678.2:g.13947889A>G	GRCh38
NC_000016.9:g.14041746A>G , CM000678.1:g.14041746A>G	GRCh37
NC_000016.8:g.13949247A>G	NCBI36
NG_011442.1:g.32733A>G , LRG_463:g.32733A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2431A>G	ENSP00000507912.1:p.Lys811Glu
ENST00000683962.1:c.*1987A>G	ENSP00000506854.1:n.*1987A>G
ENST00000311895.8:c.2293A>G MANE Select	ENSP00000310520.7:p.Lys765Glu
ENST00000311895.7:c.2293A>G	ENSP00000310520.7:p.Lys765Glu
ENST00000389138.7:n.1570A>G
ENST00000462862.1:c.606A>G	ENSP00000461322.1:n.606A>G
NM_005236.2:c.2293A>G , LRG_463t1:c.2293A>G	NP_005227.1:p.Lys765Glu
XM_011522424.1:c.2431A>G	XP_011520726.1:p.Lys811Glu
XM_011522425.1:c.1750A>G	XP_011520727.1:p.Lys584Glu
XM_011522426.1:c.1504A>G	XP_011520728.1:p.Lys502Glu
XM_011522427.1:c.943A>G	XP_011520729.1:p.Lys315Glu
XR_932805.1:n.2452A>G
XM_011522424.3:c.2431A>G	XP_011520726.1:p.Lys811Glu
XM_017023043.2:c.1504A>G	XP_016878532.1:p.Lys502Glu
NM_005236.3:c.2293A>G MANE Select	NP_005227.1:p.Lys765Glu