Canonical Allele Identifier: CA2577338137
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10644853-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644853G>A , CM000682.2:g.10644853G>A GRCh38
NC_000020.10:g.10625501G>A , CM000682.1:g.10625501G>A GRCh37
NC_000020.9:g.10573501G>A NCBI36
NG_007496.1:g.34194C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+10C>T MANE Select ENSP00000254958.4:n.2344+10C>T
ENST00000617965.2:n.2933+10C>T
ENST00000254958.9:c.2344+10C>T ENSP00000254958.4:n.2344+10C>T
ENST00000423891.6:n.2210+10C>T
ENST00000488480.2:n.751C>T
NM_000214.2:c.2344+10C>T NP_000205.1:n.2344+10C>T
NM_000214.3:c.2344+10C>T MANE Select NP_000205.1:n.2344+10C>T
Search 100 bp 5'
Search 100 bp 3'