Canonical Allele Identifier: CA10577608
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 234322
ClinVar RCV Id: RCV000216570 RCV002519743
dbSNP Id: rs755427292
MyVariant Identifiers: chr20:g.10625551G>T (hg19) chr20:g.10644903G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644903G>T , CM000682.2:g.10644903G>T GRCh38
NC_000020.10:g.10625551G>T , CM000682.1:g.10625551G>T GRCh37
NC_000020.9:g.10573551G>T NCBI36
NG_007496.1:g.34144C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2304C>A MANE Select ENSP00000254958.4:p.Cys768Ter
ENST00000617965.2:n.2893C>A
ENST00000254958.9:c.2304C>A ENSP00000254958.4:p.Cys768Ter
ENST00000423891.6:n.2170C>A
ENST00000488480.2:n.701C>A
NM_000214.2:c.2304C>A NP_000205.1:p.Cys768Ter
NM_000214.3:c.2304C>A MANE Select NP_000205.1:p.Cys768Ter
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