Canonical Allele Identifier: CA634452183
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1425565169
gnomAD v2: 20-10625476-A-C
gnomAD v4: 20-10644828-A-C
MyVariant Identifiers: chr20:g.10625476A>C (hg19) chr20:g.10644828A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644828A>C , CM000682.2:g.10644828A>C GRCh38
NC_000020.10:g.10625476A>C , CM000682.1:g.10625476A>C GRCh37
NC_000020.9:g.10573476A>C NCBI36
NG_007496.1:g.34219T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+35T>G MANE Select ENSP00000254958.4:n.2344+35T>G
ENST00000617965.2:n.2933+35T>G
ENST00000254958.9:c.2344+35T>G ENSP00000254958.4:n.2344+35T>G
ENST00000423891.6:n.2210+35T>G
ENST00000488480.2:n.776T>G
NM_000214.2:c.2344+35T>G NP_000205.1:n.2344+35T>G
NM_000214.3:c.2344+35T>G MANE Select NP_000205.1:n.2344+35T>G
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