Canonical Allele Identifier: CA311351599
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs968652548
gnomAD v3: 20-10658814-G-C
gnomAD v4: 20-10658814-G-C
MyVariant Identifiers: chr20:g.10639462G>C (hg19) chr20:g.10658814G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658814G>C , CM000682.2:g.10658814G>C GRCh38
NC_000020.10:g.10639462G>C , CM000682.1:g.10639462G>C GRCh37
NC_000020.9:g.10587462G>C NCBI36
NG_007496.1:g.20233C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.440-92C>G MANE Select ENSP00000254958.4:n.440-92C>G
ENST00000254958.9:c.440-92C>G ENSP00000254958.4:n.440-92C>G
ENST00000423891.6:n.306-92C>G
NM_000214.2:c.440-92C>G NP_000205.1:n.440-92C>G
NM_000214.3:c.440-92C>G MANE Select NP_000205.1:n.440-92C>G
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