Canonical Allele Identifier: CA408238367
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10650250A>C , CM000682.2:g.10650250A>C GRCh38
NC_000020.10:g.10630898A>C , CM000682.1:g.10630898A>C GRCh37
NC_000020.9:g.10578898A>C NCBI36
NG_007496.1:g.28797T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.1231T>G MANE Select ENSP00000254958.4:p.Leu411Val
ENST00000617965.2:n.1820T>G
ENST00000254958.9:c.1231T>G ENSP00000254958.4:p.Leu411Val
ENST00000423891.6:n.1097T>G
ENST00000622545.1:c.8T>G
NM_000214.2:c.1231T>G NP_000205.1:p.Leu411Val
NM_000214.3:c.1231T>G MANE Select NP_000205.1:p.Leu411Val