Canonical Allele Identifier: CA320202

Gene: JAG1

Linked Data

• ClinVar Variation Id: 213525
• ClinVar RCV Id: RCV000195826 ; RCV000249515 ; RCV000382364 ; RCV000861319 ; RCV002478684
• dbSNP Id: rs139574260
• ExAC: 20:10632876 A / G
• gnomAD v2: 20-10632876-A-G
• gnomAD v3: 20-10652228-A-G
• gnomAD v4: 20-10652228-A-G
• MyVariant Identifiers: chr20:g.10632876A>G (hg19) ; chr20:g.10652228A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10652228A>G , CM000682.2:g.10652228A>G	GRCh38
NC_000020.10:g.10632876A>G , CM000682.1:g.10632876A>G	GRCh37
NC_000020.9:g.10580876A>G	NCBI36
NG_007496.1:g.26819T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.909T>C MANE Select	ENSP00000254958.4:p.His303=
ENST00000617965.2:n.278T>C
ENST00000254958.9:c.909T>C	ENSP00000254958.4:p.His303=
ENST00000423891.6:n.775T>C
ENST00000617965.1:n.278T>C
NM_000214.2:c.909T>C	NP_000205.1:p.His303=
NM_000214.3:c.909T>C MANE Select	NP_000205.1:p.His303=