Canonical Allele Identifier: CA311345367
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs562778336
gnomAD v3: 20-10644954-G-T
gnomAD v4: 20-10644954-G-T
COSMIC: COSM6311527 COSM6311528
MyVariant Identifiers: chr20:g.10625602G>T (hg19) chr20:g.10644954G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644954G>T , CM000682.2:g.10644954G>T GRCh38
NC_000020.10:g.10625602G>T , CM000682.1:g.10625602G>T GRCh37
NC_000020.9:g.10573602G>T NCBI36
NG_007496.1:g.34093C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2253C>A MANE Select ENSP00000254958.4:p.Asn751Lys
ENST00000617965.2:n.2842C>A
ENST00000254958.9:c.2253C>A ENSP00000254958.4:p.Asn751Lys
ENST00000423891.6:n.2119C>A
ENST00000488480.2:n.650C>A
NM_000214.2:c.2253C>A NP_000205.1:p.Asn751Lys
NM_000214.3:c.2253C>A MANE Select NP_000205.1:p.Asn751Lys
Search 100 bp 5'
Search 100 bp 3'