Canonical Allele Identifier: CA311345109
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs574437777
gnomAD v2: 20-10625365-G-T
gnomAD v3: 20-10644717-G-T
gnomAD v4: 20-10644717-G-T
MyVariant Identifiers: chr20:g.10625365G>T (hg19) chr20:g.10644717G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644717G>T , CM000682.2:g.10644717G>T GRCh38
NC_000020.10:g.10625365G>T , CM000682.1:g.10625365G>T GRCh37
NC_000020.9:g.10573365G>T NCBI36
NG_007496.1:g.34330C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+146C>A MANE Select ENSP00000254958.4:n.2344+146C>A
ENST00000617965.2:n.2933+146C>A
ENST00000254958.9:c.2344+146C>A ENSP00000254958.4:n.2344+146C>A
ENST00000423891.6:n.2210+146C>A
ENST00000488480.2:n.887C>A
NM_000214.2:c.2344+146C>A NP_000205.1:n.2344+146C>A
NM_000214.3:c.2344+146C>A MANE Select NP_000205.1:n.2344+146C>A
Search 100 bp 5'
Search 100 bp 3'