Canonical Allele Identifier: CA10652362
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 337738
ClinVar RCV Id: RCV000321440
dbSNP Id: rs886056512
MyVariant Identifiers: chr20:g.10619768A>C (hg19) chr20:g.10639120A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10639120A>C , CM000682.2:g.10639120A>C GRCh38
NC_000020.10:g.10619768A>C , CM000682.1:g.10619768A>C GRCh37
NC_000020.9:g.10567768A>C NCBI36
NG_007496.1:g.39927T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.*378T>G MANE Select ENSP00000254958.4:n.*378T>G
ENST00000254958.9:c.*378T>G ENSP00000254958.4:n.*378T>G
ENST00000423891.6:n.3549+352T>G
NM_000214.2:c.*378T>G NP_000205.1:n.*378T>G
NM_000214.3:c.*378T>G MANE Select NP_000205.1:n.*378T>G
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