Canonical Allele Identifier: CA493444476
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs1272981092
MyVariant Identifiers: chr16:g.14042087C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948230C>A , CM000678.2:g.13948230C>A GRCh38
NC_000016.9:g.14042087C>A , CM000678.1:g.14042087C>A GRCh37
NC_000016.8:g.13949588C>A NCBI36
NG_011442.1:g.33074C>A , LRG_463:g.33074C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2772C>A ENSP00000507912.1:p.Ala924=
ENST00000683962.1:c.*2328C>A ENSP00000506854.1:n.*2328C>A
ENST00000311895.8:c.2634C>A MANE Select ENSP00000310520.7:p.Ala878=
ENST00000311895.7:c.2634C>A ENSP00000310520.7:p.Ala878=
ENST00000389138.7:n.1911C>A
NM_005236.2:c.2634C>A , LRG_463t1:c.2634C>A NP_005227.1:p.Ala878=
XM_011522424.1:c.2772C>A XP_011520726.1:p.Ala924=
XM_011522425.1:c.2091C>A XP_011520727.1:p.Ala697=
XM_011522426.1:c.1845C>A XP_011520728.1:p.Ala615=
XM_011522427.1:c.1284C>A XP_011520729.1:p.Ala428=
XR_932805.1:n.2793C>A
XM_011522424.3:c.2772C>A XP_011520726.1:p.Ala924=
XM_017023043.2:c.1845C>A XP_016878532.1:p.Ala615=
NM_005236.3:c.2634C>A MANE Select NP_005227.1:p.Ala878=