Canonical Allele Identifier: CA408244885
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10641546-C-T
MyVariant Identifiers: chr20:g.10622194C>T (hg19) chr20:g.10641546C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10641546C>T , CM000682.2:g.10641546C>T GRCh38
NC_000020.10:g.10622194C>T , CM000682.1:g.10622194C>T GRCh37
NC_000020.9:g.10570194C>T NCBI36
NG_007496.1:g.37501G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2830G>A MANE Select ENSP00000254958.4:p.Val944Met
ENST00000254958.9:c.2830G>A ENSP00000254958.4:p.Val944Met
ENST00000423891.6:n.2696G>A
NM_000214.2:c.2830G>A NP_000205.1:p.Val944Met
NM_000214.3:c.2830G>A MANE Select NP_000205.1:p.Val944Met
Search 100 bp 5'
Search 100 bp 3'