Canonical Allele Identifier: CA634454271
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2728401
ClinVar RCV Id: RCV003511287
dbSNP Id: rs1209302268
gnomAD v2: 20-10630892-T-C
gnomAD v3: 20-10650244-T-C
gnomAD v4: 20-10650244-T-C
MyVariant Identifiers: chr20:g.10630892T>C (hg19) chr20:g.10650244T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10650244T>C , CM000682.2:g.10650244T>C GRCh38
NC_000020.10:g.10630892T>C , CM000682.1:g.10630892T>C GRCh37
NC_000020.9:g.10578892T>C NCBI36
NG_007496.1:g.28803A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.1234+3A>G MANE Select ENSP00000254958.4:n.1234+3A>G
ENST00000617965.2:n.1823+3A>G
ENST00000254958.9:c.1234+3A>G ENSP00000254958.4:n.1234+3A>G
ENST00000423891.6:n.1100+3A>G
ENST00000622545.1:c.11+3A>G
NM_000214.2:c.1234+3A>G NP_000205.1:n.1234+3A>G
NM_000214.3:c.1234+3A>G MANE Select NP_000205.1:n.1234+3A>G
Search 100 bp 5'
Search 100 bp 3'