Canonical Allele Identifier: CA408239912

Gene: JAG1

Linked Data

• MyVariant Identifiers: chr20:g.10639128C>G (hg19) ; chr20:g.10658480C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658480C>G , CM000682.2:g.10658480C>G	GRCh38
NC_000020.10:g.10639128C>G , CM000682.1:g.10639128C>G	GRCh37
NC_000020.9:g.10587128C>G	NCBI36
NG_007496.1:g.20567G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.682G>C MANE Select	ENSP00000254958.4:p.Glu228Gln
ENST00000254958.9:c.682G>C	ENSP00000254958.4:p.Glu228Gln
ENST00000423891.6:n.548G>C
NM_000214.2:c.682G>C	NP_000205.1:p.Glu228Gln
NM_000214.3:c.682G>C MANE Select	NP_000205.1:p.Glu228Gln