Canonical Allele Identifier: CA408240671

Gene: JAG1

Linked Data

• MyVariant Identifiers: chr20:g.10639359T>G (hg19) ; chr20:g.10658711T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658711T>G , CM000682.2:g.10658711T>G	GRCh38
NC_000020.10:g.10639359T>G , CM000682.1:g.10639359T>G	GRCh37
NC_000020.9:g.10587359T>G	NCBI36
NG_007496.1:g.20336A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.451A>C MANE Select	ENSP00000254958.4:p.Ile151Leu
ENST00000254958.9:c.451A>C	ENSP00000254958.4:p.Ile151Leu
ENST00000423891.6:n.317A>C
NM_000214.2:c.451A>C	NP_000205.1:p.Ile151Leu
NM_000214.3:c.451A>C MANE Select	NP_000205.1:p.Ile151Leu