Canonical Allele Identifier: CA493690112
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14041934A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948077A>G , CM000678.2:g.13948077A>G GRCh38
NC_000016.9:g.14041934A>G , CM000678.1:g.14041934A>G GRCh37
NC_000016.8:g.13949435A>G NCBI36
NG_011442.1:g.32921A>G , LRG_463:g.32921A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2619A>G ENSP00000507912.1:p.Thr873=
ENST00000683962.1:c.*2175A>G ENSP00000506854.1:n.*2175A>G
ENST00000311895.8:c.2481A>G MANE Select ENSP00000310520.7:p.Thr827=
ENST00000311895.7:c.2481A>G ENSP00000310520.7:p.Thr827=
ENST00000389138.7:n.1758A>G
NM_005236.2:c.2481A>G , LRG_463t1:c.2481A>G NP_005227.1:p.Thr827=
XM_011522424.1:c.2619A>G XP_011520726.1:p.Thr873=
XM_011522425.1:c.1938A>G XP_011520727.1:p.Thr646=
XM_011522426.1:c.1692A>G XP_011520728.1:p.Thr564=
XM_011522427.1:c.1131A>G XP_011520729.1:p.Thr377=
XR_932805.1:n.2640A>G
XM_011522424.3:c.2619A>G XP_011520726.1:p.Thr873=
XM_017023043.2:c.1692A>G XP_016878532.1:p.Thr564=
NM_005236.3:c.2481A>G MANE Select NP_005227.1:p.Thr827=