Canonical Allele Identifier: CA2651914384
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10644620-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644620A>G , CM000682.2:g.10644620A>G GRCh38
NC_000020.10:g.10625268A>G , CM000682.1:g.10625268A>G GRCh37
NC_000020.9:g.10573268A>G NCBI36
NG_007496.1:g.34427T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2345-236T>C MANE Select ENSP00000254958.4:n.2345-236T>C
ENST00000617965.2:n.2934-236T>C
ENST00000254958.9:c.2345-236T>C ENSP00000254958.4:n.2345-236T>C
ENST00000423891.6:n.2211-236T>C
ENST00000488480.2:n.984T>C
NM_000214.2:c.2345-236T>C NP_000205.1:n.2345-236T>C
NM_000214.3:c.2345-236T>C MANE Select NP_000205.1:n.2345-236T>C
Search 100 bp 5'
Search 100 bp 3'