Canonical Allele Identifier: CA408234846
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1229149311
gnomAD v2: 20-10625516-G-A
gnomAD v3: 20-10644868-G-A
gnomAD v4: 20-10644868-G-A
MyVariant Identifiers: chr20:g.10625516G>A (hg19) chr20:g.10644868G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644868G>A , CM000682.2:g.10644868G>A GRCh38
NC_000020.10:g.10625516G>A , CM000682.1:g.10625516G>A GRCh37
NC_000020.9:g.10573516G>A NCBI36
NG_007496.1:g.34179C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2339C>T MANE Select ENSP00000254958.4:p.Ala780Val
ENST00000617965.2:n.2928C>T
ENST00000254958.9:c.2339C>T ENSP00000254958.4:p.Ala780Val
ENST00000423891.6:n.2205C>T
ENST00000488480.2:n.736C>T
NM_000214.2:c.2339C>T NP_000205.1:p.Ala780Val
NM_000214.3:c.2339C>T MANE Select NP_000205.1:p.Ala780Val
Search 100 bp 5'
Search 100 bp 3'