Canonical Allele Identifier: CA493690143
Gene: ERCC4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.14041952A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948095A>T , CM000678.2:g.13948095A>T GRCh38
NC_000016.9:g.14041952A>T , CM000678.1:g.14041952A>T GRCh37
NC_000016.8:g.13949453A>T NCBI36
NG_011442.1:g.32939A>T , LRG_463:g.32939A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2637A>T ENSP00000507912.1:p.Ala879=
ENST00000683962.1:c.*2193A>T ENSP00000506854.1:n.*2193A>T
ENST00000311895.8:c.2499A>T MANE Select ENSP00000310520.7:p.Ala833=
ENST00000311895.7:c.2499A>T ENSP00000310520.7:p.Ala833=
ENST00000389138.7:n.1776A>T
NM_005236.2:c.2499A>T , LRG_463t1:c.2499A>T NP_005227.1:p.Ala833=
XM_011522424.1:c.2637A>T XP_011520726.1:p.Ala879=
XM_011522425.1:c.1956A>T XP_011520727.1:p.Ala652=
XM_011522426.1:c.1710A>T XP_011520728.1:p.Ala570=
XM_011522427.1:c.1149A>T XP_011520729.1:p.Ala383=
XR_932805.1:n.2658A>T
XM_011522424.3:c.2637A>T XP_011520726.1:p.Ala879=
XM_017023043.2:c.1710A>T XP_016878532.1:p.Ala570=
NM_005236.3:c.2499A>T MANE Select NP_005227.1:p.Ala833=