Canonical Allele Identifier: CA394823367
Community Standard Title: NM_005236.3(ERCC4):c.2389A>G (p.Arg797Gly)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947985A>G , CM000678.2:g.13947985A>G GRCh38
NC_000016.9:g.14041842A>G , CM000678.1:g.14041842A>G GRCh37
NC_000016.8:g.13949343A>G NCBI36
NG_011442.1:g.32829A>G , LRG_463:g.32829A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2389A>G MANE Select NP_005227.1:p.Arg797Gly
ENST00000311895.8:c.2389A>G MANE Select ENSP00000310520.7:p.Arg797Gly
NM_005236.2:c.2389A>G , LRG_463t1:c.2389A>G NP_005227.1:p.Arg797Gly
ENST00000311895.7:c.2389A>G ENSP00000310520.7:p.Arg797Gly
ENST00000389138.7:n.1666A>G
ENST00000462862.1:c.702A>G ENSP00000461322.1:n.702A>G
ENST00000682617.1:c.2527A>G ENSP00000507912.1:p.Arg843Gly
ENST00000683962.1:c.*2083A>G ENSP00000506854.1:n.*2083A>G
XM_011522424.1:c.2527A>G XP_011520726.1:p.Arg843Gly
XM_011522424.3:c.2527A>G XP_011520726.1:p.Arg843Gly
XM_011522425.1:c.1846A>G XP_011520727.1:p.Arg616Gly
XM_011522426.1:c.1600A>G XP_011520728.1:p.Arg534Gly
XM_011522427.1:c.1039A>G XP_011520729.1:p.Arg347Gly
XM_017023043.2:c.1600A>G XP_016878532.1:p.Arg534Gly
XR_932805.1:n.2548A>G