Canonical Allele Identifier: CA311347980
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs570692834

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10650239G>A , CM000682.2:g.10650239G>A GRCh38
NC_000020.10:g.10630887G>A , CM000682.1:g.10630887G>A GRCh37
NC_000020.9:g.10578887G>A NCBI36
NG_007496.1:g.28808C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.1234+8C>T MANE Select ENSP00000254958.4:n.1234+8C>T
ENST00000617965.2:n.1823+8C>T
ENST00000254958.9:c.1234+8C>T ENSP00000254958.4:n.1234+8C>T
ENST00000423891.6:n.1100+8C>T
ENST00000622545.1:c.11+8C>T
NM_000214.2:c.1234+8C>T NP_000205.1:n.1234+8C>T
NM_000214.3:c.1234+8C>T MANE Select NP_000205.1:n.1234+8C>T