Canonical Allele Identifier: CA394823066

Gene: ERCC4

Linked Data

• dbSNP Id: rs2032551732
• MyVariant Identifiers: chr16:g.14041783A>G (hg19) ; chr16:g.13947926A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.13947926A>G , CM000678.2:g.13947926A>G	GRCh38
NC_000016.9:g.14041783A>G , CM000678.1:g.14041783A>G	GRCh37
NC_000016.8:g.13949284A>G	NCBI36
NG_011442.1:g.32770A>G , LRG_463:g.32770A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682617.1:c.2468A>G	ENSP00000507912.1:p.Gln823Arg
ENST00000683962.1:c.*2024A>G	ENSP00000506854.1:n.*2024A>G
ENST00000311895.8:c.2330A>G MANE Select	ENSP00000310520.7:p.Gln777Arg
ENST00000311895.7:c.2330A>G	ENSP00000310520.7:p.Gln777Arg
ENST00000389138.7:n.1607A>G
ENST00000462862.1:c.643A>G	ENSP00000461322.1:n.643A>G
NM_005236.2:c.2330A>G , LRG_463t1:c.2330A>G	NP_005227.1:p.Gln777Arg
XM_011522424.1:c.2468A>G	XP_011520726.1:p.Gln823Arg
XM_011522425.1:c.1787A>G	XP_011520727.1:p.Gln596Arg
XM_011522426.1:c.1541A>G	XP_011520728.1:p.Gln514Arg
XM_011522427.1:c.980A>G	XP_011520729.1:p.Gln327Arg
XR_932805.1:n.2489A>G
XM_011522424.3:c.2468A>G	XP_011520726.1:p.Gln823Arg
XM_017023043.2:c.1541A>G	XP_016878532.1:p.Gln514Arg
NM_005236.3:c.2330A>G MANE Select	NP_005227.1:p.Gln777Arg