Canonical Allele Identifier: CA394812487

Gene: ERCC4

Linked Data

• gnomAD v4: 16-13935644-A-G
• COSMIC: COSM4434513
• MyVariant Identifiers: chr16:g.14029501A>G (hg19) ; chr16:g.13935644A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13935644A>G , CM000678.2:g.13935644A>G	GRCh38
NC_000016.9:g.14029501A>G , CM000678.1:g.14029501A>G	GRCh37
NC_000016.8:g.13937002A>G	NCBI36
NG_011442.1:g.20488A>G , LRG_463:g.20488A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682568.1:n.1790A>G
ENST00000682617.1:c.1850A>G	ENSP00000507912.1:p.His617Arg
ENST00000682826.1:c.*1026A>G	ENSP00000507274.1:n.*1026A>G
ENST00000682909.1:n.3752A>G
ENST00000683277.1:n.3357A>G
ENST00000683407.1:n.1720A>G
ENST00000683962.1:c.*1406A>G	ENSP00000506854.1:n.*1406A>G
ENST00000311895.8:c.1712A>G MANE Select	ENSP00000310520.7:p.His571Arg
ENST00000311895.7:c.1712A>G	ENSP00000310520.7:p.His571Arg
ENST00000389138.7:n.989A>G
NM_005236.2:c.1712A>G , LRG_463t1:c.1712A>G	NP_005227.1:p.His571Arg
XM_011522424.1:c.1850A>G	XP_011520726.1:p.His617Arg
XM_011522425.1:c.1169A>G	XP_011520727.1:p.His390Arg
XM_011522426.1:c.923A>G	XP_011520728.1:p.His308Arg
XM_011522427.1:c.362A>G	XP_011520729.1:p.His121Arg
XR_932805.1:n.1871A>G
XM_011522424.3:c.1850A>G	XP_011520726.1:p.His617Arg
XM_017023043.2:c.923A>G	XP_016878532.1:p.His308Arg
NM_005236.3:c.1712A>G MANE Select	NP_005227.1:p.His571Arg