Canonical Allele Identifier: CA2349881992
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1600180756

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643909A>C , CM000682.2:g.10643909A>C GRCh38
NC_000020.10:g.10624557A>C , CM000682.1:g.10624557A>C GRCh37
NC_000020.9:g.10572557A>C NCBI36
NG_007496.1:g.35138T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-46T>G MANE Select ENSP00000254958.4:n.2373-46T>G
ENST00000617965.2:n.2962-46T>G
ENST00000254958.9:c.2373-46T>G ENSP00000254958.4:n.2373-46T>G
ENST00000423891.6:n.2239-46T>G
NM_000214.2:c.2373-46T>G NP_000205.1:n.2373-46T>G
NM_000214.3:c.2373-46T>G MANE Select NP_000205.1:n.2373-46T>G