Canonical Allele Identifier: CA493689640
Gene: ERCC4 HGNC NCBI

Linked Data

dbSNP Id: rs2032541864
MyVariant Identifiers: chr16:g.14041559G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947702G>T , CM000678.2:g.13947702G>T GRCh38
NC_000016.9:g.14041559G>T , CM000678.1:g.14041559G>T GRCh37
NC_000016.8:g.13949060G>T NCBI36
NG_011442.1:g.32546G>T , LRG_463:g.32546G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2244G>T ENSP00000507912.1:p.Arg748=
ENST00000683962.1:c.*1800G>T ENSP00000506854.1:n.*1800G>T
ENST00000311895.8:c.2106G>T MANE Select ENSP00000310520.7:p.Arg702=
ENST00000311895.7:c.2106G>T ENSP00000310520.7:p.Arg702=
ENST00000389138.7:n.1383G>T
ENST00000462862.1:c.419G>T ENSP00000461322.1:n.419G>T
NM_005236.2:c.2106G>T , LRG_463t1:c.2106G>T NP_005227.1:p.Arg702=
XM_011522424.1:c.2244G>T XP_011520726.1:p.Arg748=
XM_011522425.1:c.1563G>T XP_011520727.1:p.Arg521=
XM_011522426.1:c.1317G>T XP_011520728.1:p.Arg439=
XM_011522427.1:c.756G>T XP_011520729.1:p.Arg252=
XR_932805.1:n.2265G>T
XM_011522424.3:c.2244G>T XP_011520726.1:p.Arg748=
XM_017023043.2:c.1317G>T XP_016878532.1:p.Arg439=
NM_005236.3:c.2106G>T MANE Select NP_005227.1:p.Arg702=