Canonical Allele Identifier: CA9764554
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs761900799
ExAC: 20:10625512 C / G
gnomAD v2: 20-10625512-C-G
gnomAD v4: 20-10644864-C-G
MyVariant Identifiers: chr20:g.10625512C>G (hg19) chr20:g.10644864C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644864C>G , CM000682.2:g.10644864C>G GRCh38
NC_000020.10:g.10625512C>G , CM000682.1:g.10625512C>G GRCh37
NC_000020.9:g.10573512C>G NCBI36
NG_007496.1:g.34183G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2343G>C MANE Select ENSP00000254958.4:p.Gln781His
ENST00000617965.2:n.2932G>C
ENST00000254958.9:c.2343G>C ENSP00000254958.4:p.Gln781His
ENST00000423891.6:n.2209G>C
ENST00000488480.2:n.740G>C
NM_000214.2:c.2343G>C NP_000205.1:p.Gln781His
NM_000214.3:c.2343G>C MANE Select NP_000205.1:p.Gln781His
Search 100 bp 5'
Search 100 bp 3'