Canonical Allele Identifier: CA2349888346
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs2067392448
gnomAD v3: 20-10658403-G-A
gnomAD v4: 20-10658403-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658403G>A , CM000682.2:g.10658403G>A GRCh38
NC_000020.10:g.10639051G>A , CM000682.1:g.10639051G>A GRCh37
NC_000020.9:g.10587051G>A NCBI36
NG_007496.1:g.20644C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.694+65C>T MANE Select ENSP00000254958.4:n.694+65C>T
ENST00000254958.9:c.694+65C>T ENSP00000254958.4:n.694+65C>T
ENST00000423891.6:n.560+65C>T
NM_000214.2:c.694+65C>T NP_000205.1:n.694+65C>T
NM_000214.3:c.694+65C>T MANE Select NP_000205.1:n.694+65C>T
Search 100 bp 5'
Search 100 bp 3'