Canonical Allele Identifier: CA408234978

Gene: JAG1

Linked Data

• gnomAD v4: 20-10644929-C-A
• MyVariant Identifiers: chr20:g.10625577C>A (hg19) ; chr20:g.10644929C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644929C>A , CM000682.2:g.10644929C>A	GRCh38
NC_000020.10:g.10625577C>A , CM000682.1:g.10625577C>A	GRCh37
NC_000020.9:g.10573577C>A	NCBI36
NG_007496.1:g.34118G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2278G>T MANE Select	ENSP00000254958.4:p.Val760Leu
ENST00000617965.2:n.2867G>T
ENST00000254958.9:c.2278G>T	ENSP00000254958.4:p.Val760Leu
ENST00000423891.6:n.2144G>T
ENST00000488480.2:n.675G>T
NM_000214.2:c.2278G>T	NP_000205.1:p.Val760Leu
NM_000214.3:c.2278G>T MANE Select	NP_000205.1:p.Val760Leu