Canonical Allele Identifier: CA634801903
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1466007294
gnomAD v2: 20-10625928-A-G
gnomAD v4: 20-10645280-A-G
MyVariant Identifiers: chr20:g.10625928A>G (hg19) chr20:g.10645280A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10645280A>G , CM000682.2:g.10645280A>G GRCh38
NC_000020.10:g.10625928A>G , CM000682.1:g.10625928A>G GRCh37
NC_000020.9:g.10573928A>G NCBI36
NG_007496.1:g.33767T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2114-24T>C MANE Select ENSP00000254958.4:n.2114-24T>C
ENST00000617965.2:n.2703-24T>C
ENST00000254958.9:c.2114-24T>C ENSP00000254958.4:n.2114-24T>C
ENST00000423891.6:n.1980-24T>C
ENST00000488480.2:n.511-24T>C
NM_000214.2:c.2114-24T>C NP_000205.1:n.2114-24T>C
NM_000214.3:c.2114-24T>C MANE Select NP_000205.1:n.2114-24T>C
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