Canonical Allele Identifier: CA634801968
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1274615105
gnomAD v2: 20-10633289-T-G
gnomAD v4: 20-10652641-T-G
MyVariant Identifiers: chr20:g.10633289T>G (hg19) chr20:g.10652641T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652641T>G , CM000682.2:g.10652641T>G GRCh38
NC_000020.10:g.10633289T>G , CM000682.1:g.10633289T>G GRCh37
NC_000020.9:g.10581289T>G NCBI36
NG_007496.1:g.26406A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.756-43A>C MANE Select ENSP00000254958.4:n.756-43A>C
ENST00000617965.2:n.82A>C
ENST00000254958.9:c.756-43A>C ENSP00000254958.4:n.756-43A>C
ENST00000423891.6:n.622-43A>C
ENST00000617965.1:n.82A>C
NM_000214.2:c.756-43A>C NP_000205.1:n.756-43A>C
NM_000214.3:c.756-43A>C MANE Select NP_000205.1:n.756-43A>C
Search 100 bp 5'
Search 100 bp 3'