Canonical Allele Identifier: CA493690049
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14041865C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948008C>G , CM000678.2:g.13948008C>G GRCh38
NC_000016.9:g.14041865C>G , CM000678.1:g.14041865C>G GRCh37
NC_000016.8:g.13949366C>G NCBI36
NG_011442.1:g.32852C>G , LRG_463:g.32852C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682617.1:c.2550C>G ENSP00000507912.1:p.Pro850=
ENST00000683962.1:c.*2106C>G ENSP00000506854.1:n.*2106C>G
ENST00000311895.8:c.2412C>G MANE Select ENSP00000310520.7:p.Pro804=
ENST00000311895.7:c.2412C>G ENSP00000310520.7:p.Pro804=
ENST00000389138.7:n.1689C>G
NM_005236.2:c.2412C>G , LRG_463t1:c.2412C>G NP_005227.1:p.Pro804=
XM_011522424.1:c.2550C>G XP_011520726.1:p.Pro850=
XM_011522425.1:c.1869C>G XP_011520727.1:p.Pro623=
XM_011522426.1:c.1623C>G XP_011520728.1:p.Pro541=
XM_011522427.1:c.1062C>G XP_011520729.1:p.Pro354=
XR_932805.1:n.2571C>G
XM_011522424.3:c.2550C>G XP_011520726.1:p.Pro850=
XM_017023043.2:c.1623C>G XP_016878532.1:p.Pro541=
NM_005236.3:c.2412C>G MANE Select NP_005227.1:p.Pro804=