Canonical Allele Identifier: CA311351558
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1152785
ClinVar RCV Id: RCV001494204 RCV002501695
dbSNP Id: rs749293754
gnomAD v2: 20-10639317-G-A
gnomAD v3: 20-10658669-G-A
gnomAD v4: 20-10658669-G-A
MyVariant Identifiers: chr20:g.10639317G>A (hg19) chr20:g.10658669G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658669G>A , CM000682.2:g.10658669G>A GRCh38
NC_000020.10:g.10639317G>A , CM000682.1:g.10639317G>A GRCh37
NC_000020.9:g.10587317G>A NCBI36
NG_007496.1:g.20378C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.493C>T MANE Select ENSP00000254958.4:p.Arg165Trp
ENST00000254958.9:c.493C>T ENSP00000254958.4:p.Arg165Trp
ENST00000423891.6:n.359C>T
NM_000214.2:c.493C>T NP_000205.1:p.Arg165Trp
NM_000214.3:c.493C>T MANE Select NP_000205.1:p.Arg165Trp
Search 100 bp 5'
Search 100 bp 3'