Canonical Allele Identifier: CA9764491
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs372199268
ExAC: 20:10624375 T / C
gnomAD v2: 20-10624375-T-C
gnomAD v3: 20-10643727-T-C
gnomAD v4: 20-10643727-T-C
MyVariant Identifiers: chr20:g.10624375T>C (hg19) chr20:g.10643727T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643727T>C , CM000682.2:g.10643727T>C GRCh38
NC_000020.10:g.10624375T>C , CM000682.1:g.10624375T>C GRCh37
NC_000020.9:g.10572375T>C NCBI36
NG_007496.1:g.35320A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2458+51A>G MANE Select ENSP00000254958.4:n.2458+51A>G
ENST00000617965.2:n.3047+51A>G
ENST00000254958.9:c.2458+51A>G ENSP00000254958.4:n.2458+51A>G
ENST00000423891.6:n.2324+51A>G
NM_000214.2:c.2458+51A>G NP_000205.1:n.2458+51A>G
NM_000214.3:c.2458+51A>G MANE Select NP_000205.1:n.2458+51A>G
Search 100 bp 5'
Search 100 bp 3'