Canonical Allele Identifier: CA408238577

Gene: JAG1

Linked Data

• MyVariant Identifiers: chr20:g.10630993G>A (hg19) ; chr20:g.10650345G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10650345G>A , CM000682.2:g.10650345G>A	GRCh38
NC_000020.10:g.10630993G>A , CM000682.1:g.10630993G>A	GRCh37
NC_000020.9:g.10578993G>A	NCBI36
NG_007496.1:g.28702C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000254958.10:c.1136C>T MANE Select	ENSP00000254958.4:p.Ser379Phe
ENST00000617965.2:n.1725C>T
ENST00000254958.9:c.1136C>T	ENSP00000254958.4:p.Ser379Phe
ENST00000423891.6:n.1002C>T
NM_000214.2:c.1136C>T	NP_000205.1:p.Ser379Phe
NM_000214.3:c.1136C>T MANE Select	NP_000205.1:p.Ser379Phe