Canonical Allele Identifier: CA741106144
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1357733086

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644612A>C , CM000682.2:g.10644612A>C GRCh38
NC_000020.10:g.10625260A>C , CM000682.1:g.10625260A>C GRCh37
NC_000020.9:g.10573260A>C NCBI36
NG_007496.1:g.34435T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2345-228T>G MANE Select ENSP00000254958.4:n.2345-228T>G
ENST00000617965.2:n.2934-228T>G
ENST00000254958.9:c.2345-228T>G ENSP00000254958.4:n.2345-228T>G
ENST00000423891.6:n.2211-228T>G
ENST00000488480.2:n.992T>G
NM_000214.2:c.2345-228T>G NP_000205.1:n.2345-228T>G
NM_000214.3:c.2345-228T>G MANE Select NP_000205.1:n.2345-228T>G