Canonical Allele Identifier: CA493444389
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14038643A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13944786A>T , CM000678.2:g.13944786A>T GRCh38
NC_000016.9:g.14038643A>T , CM000678.1:g.14038643A>T GRCh37
NC_000016.8:g.13946144A>T NCBI36
NG_011442.1:g.29630A>T , LRG_463:g.29630A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2106A>T ENSP00000507912.1:p.Leu702=
ENST00000683962.1:c.*1662A>T ENSP00000506854.1:n.*1662A>T
ENST00000311895.8:c.1968A>T MANE Select ENSP00000310520.7:p.Leu656=
ENST00000311895.7:c.1968A>T ENSP00000310520.7:p.Leu656=
ENST00000389138.7:n.1245A>T
ENST00000462862.1:c.281A>T ENSP00000461322.1:n.281A>T
NM_005236.2:c.1968A>T , LRG_463t1:c.1968A>T NP_005227.1:p.Leu656=
XM_011522424.1:c.2106A>T XP_011520726.1:p.Leu702=
XM_011522425.1:c.1425A>T XP_011520727.1:p.Leu475=
XM_011522426.1:c.1179A>T XP_011520728.1:p.Leu393=
XM_011522427.1:c.618A>T XP_011520729.1:p.Leu206=
XR_932805.1:n.2127A>T
XM_011522424.3:c.2106A>T XP_011520726.1:p.Leu702=
XM_017023043.2:c.1179A>T XP_016878532.1:p.Leu393=
NM_005236.3:c.1968A>T MANE Select NP_005227.1:p.Leu656=