Canonical Allele Identifier: CA509662030
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs2067354507
gnomAD v3: 20-10652574-C-G
gnomAD v4: 20-10652574-C-G
MyVariant Identifiers: chr20:g.10633222C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652574C>G , CM000682.2:g.10652574C>G GRCh38
NC_000020.10:g.10633222C>G , CM000682.1:g.10633222C>G GRCh37
NC_000020.9:g.10581222C>G NCBI36
NG_007496.1:g.26473G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.780G>C MANE Select ENSP00000254958.4:p.Leu260=
ENST00000617965.2:n.149G>C
ENST00000254958.9:c.780G>C ENSP00000254958.4:p.Leu260=
ENST00000423891.6:n.646G>C
ENST00000617965.1:n.149G>C
NM_000214.2:c.780G>C NP_000205.1:p.Leu260=
NM_000214.3:c.780G>C MANE Select NP_000205.1:p.Leu260=
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