Canonical Allele Identifier: CA493689662
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14041595A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947738A>C , CM000678.2:g.13947738A>C GRCh38
NC_000016.9:g.14041595A>C , CM000678.1:g.14041595A>C GRCh37
NC_000016.8:g.13949096A>C NCBI36
NG_011442.1:g.32582A>C , LRG_463:g.32582A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2280A>C ENSP00000507912.1:p.Gly760=
ENST00000683962.1:c.*1836A>C ENSP00000506854.1:n.*1836A>C
ENST00000311895.8:c.2142A>C MANE Select ENSP00000310520.7:p.Gly714=
ENST00000311895.7:c.2142A>C ENSP00000310520.7:p.Gly714=
ENST00000389138.7:n.1419A>C
ENST00000462862.1:c.455A>C ENSP00000461322.1:n.455A>C
NM_005236.2:c.2142A>C , LRG_463t1:c.2142A>C NP_005227.1:p.Gly714=
XM_011522424.1:c.2280A>C XP_011520726.1:p.Gly760=
XM_011522425.1:c.1599A>C XP_011520727.1:p.Gly533=
XM_011522426.1:c.1353A>C XP_011520728.1:p.Gly451=
XM_011522427.1:c.792A>C XP_011520729.1:p.Gly264=
XR_932805.1:n.2301A>C
XM_011522424.3:c.2280A>C XP_011520726.1:p.Gly760=
XM_017023043.2:c.1353A>C XP_016878532.1:p.Gly451=
NM_005236.3:c.2142A>C MANE Select NP_005227.1:p.Gly714=