Canonical Allele Identifier: CA408239776

Gene: JAG1

Linked Data

• MyVariant Identifiers: chr20:g.10637065T>A (hg19) ; chr20:g.10656417T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10656417T>A , CM000682.2:g.10656417T>A	GRCh38
NC_000020.10:g.10637065T>A , CM000682.1:g.10637065T>A	GRCh37
NC_000020.9:g.10585065T>A	NCBI36
NG_007496.1:g.22630A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.736A>T MANE Select	ENSP00000254958.4:p.Lys246Ter
ENST00000254958.9:c.736A>T	ENSP00000254958.4:p.Lys246Ter
ENST00000423891.6:n.602A>T
NM_000214.2:c.736A>T	NP_000205.1:p.Lys246Ter
NM_000214.3:c.736A>T MANE Select	NP_000205.1:p.Lys246Ter