Canonical Allele Identifier: CA9765052
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs780574863
ExAC: 20:10633274 T / C
gnomAD v2: 20-10633274-T-C
gnomAD v4: 20-10652626-T-C
MyVariant Identifiers: chr20:g.10633274T>C (hg19) chr20:g.10652626T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652626T>C , CM000682.2:g.10652626T>C GRCh38
NC_000020.10:g.10633274T>C , CM000682.1:g.10633274T>C GRCh37
NC_000020.9:g.10581274T>C NCBI36
NG_007496.1:g.26421A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.756-28A>G MANE Select ENSP00000254958.4:n.756-28A>G
ENST00000617965.2:n.97A>G
ENST00000254958.9:c.756-28A>G ENSP00000254958.4:n.756-28A>G
ENST00000423891.6:n.622-28A>G
ENST00000617965.1:n.97A>G
NM_000214.2:c.756-28A>G NP_000205.1:n.756-28A>G
NM_000214.3:c.756-28A>G MANE Select NP_000205.1:n.756-28A>G
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