Canonical Allele Identifier: CA9765101
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs745784470
ExAC: 20:10639110 A / G
gnomAD v2: 20-10639110-A-G
gnomAD v4: 20-10658462-A-G
MyVariant Identifiers: chr20:g.10639110A>G (hg19) chr20:g.10658462A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658462A>G , CM000682.2:g.10658462A>G GRCh38
NC_000020.10:g.10639110A>G , CM000682.1:g.10639110A>G GRCh37
NC_000020.9:g.10587110A>G NCBI36
NG_007496.1:g.20585T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.694+6T>C MANE Select ENSP00000254958.4:n.694+6T>C
ENST00000254958.9:c.694+6T>C ENSP00000254958.4:n.694+6T>C
ENST00000423891.6:n.560+6T>C
NM_000214.2:c.694+6T>C NP_000205.1:n.694+6T>C
NM_000214.3:c.694+6T>C MANE Select NP_000205.1:n.694+6T>C
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