Canonical Allele Identifier: CA2577338135
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs2122602231
gnomAD v3: 20-10644851-G-A
gnomAD v4: 20-10644851-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644851G>A , CM000682.2:g.10644851G>A GRCh38
NC_000020.10:g.10625499G>A , CM000682.1:g.10625499G>A GRCh37
NC_000020.9:g.10573499G>A NCBI36
NG_007496.1:g.34196C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2344+12C>T MANE Select ENSP00000254958.4:n.2344+12C>T
ENST00000617965.2:n.2933+12C>T
ENST00000254958.9:c.2344+12C>T ENSP00000254958.4:n.2344+12C>T
ENST00000423891.6:n.2210+12C>T
ENST00000488480.2:n.753C>T
NM_000214.2:c.2344+12C>T NP_000205.1:n.2344+12C>T
NM_000214.3:c.2344+12C>T MANE Select NP_000205.1:n.2344+12C>T
Search 100 bp 5'
Search 100 bp 3'