Canonical Allele Identifier: CA9764626
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs779813789
ExAC: 20:10625925 G / A
gnomAD v2: 20-10625925-G-A
gnomAD v4: 20-10645277-G-A
MyVariant Identifiers: chr20:g.10625925G>A (hg19) chr20:g.10645277G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10645277G>A , CM000682.2:g.10645277G>A GRCh38
NC_000020.10:g.10625925G>A , CM000682.1:g.10625925G>A GRCh37
NC_000020.9:g.10573925G>A NCBI36
NG_007496.1:g.33770C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2114-21C>T MANE Select ENSP00000254958.4:n.2114-21C>T
ENST00000617965.2:n.2703-21C>T
ENST00000254958.9:c.2114-21C>T ENSP00000254958.4:n.2114-21C>T
ENST00000423891.6:n.1980-21C>T
ENST00000488480.2:n.511-21C>T
NM_000214.2:c.2114-21C>T NP_000205.1:n.2114-21C>T
NM_000214.3:c.2114-21C>T MANE Select NP_000205.1:n.2114-21C>T
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