Canonical Allele Identifier: CA9764558
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 234698
ClinVar RCV Id: RCV000223517 RCV001322306 RCV002485443
dbSNP Id: rs149949294
ExAC: 20:10625543 T / C
gnomAD v2: 20-10625543-T-C
gnomAD v3: 20-10644895-T-C
gnomAD v4: 20-10644895-T-C
MyVariant Identifiers: chr20:g.10625543T>C (hg19) chr20:g.10644895T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644895T>C , CM000682.2:g.10644895T>C GRCh38
NC_000020.10:g.10625543T>C , CM000682.1:g.10625543T>C GRCh37
NC_000020.9:g.10573543T>C NCBI36
NG_007496.1:g.34152A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2312A>G MANE Select ENSP00000254958.4:p.Lys771Arg
ENST00000617965.2:n.2901A>G
ENST00000254958.9:c.2312A>G ENSP00000254958.4:p.Lys771Arg
ENST00000423891.6:n.2178A>G
ENST00000488480.2:n.709A>G
NM_000214.2:c.2312A>G NP_000205.1:p.Lys771Arg
NM_000214.3:c.2312A>G MANE Select NP_000205.1:p.Lys771Arg
Search 100 bp 5'
Search 100 bp 3'