Canonical Allele Identifier: CA634451632

Gene: JAG1

Linked Data

• dbSNP Id: rs1340553981
• gnomAD v2: 20-10624706-A-G
• gnomAD v3: 20-10644058-A-G
• gnomAD v4: 20-10644058-A-G
• MyVariant Identifiers: chr20:g.10624706A>G (hg19) ; chr20:g.10644058A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644058A>G , CM000682.2:g.10644058A>G	GRCh38
NC_000020.10:g.10624706A>G , CM000682.1:g.10624706A>G	GRCh37
NC_000020.9:g.10572706A>G	NCBI36
NG_007496.1:g.34989T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2373-195T>C MANE Select	ENSP00000254958.4:n.2373-195T>C
ENST00000617965.2:n.2962-195T>C
ENST00000254958.9:c.2373-195T>C	ENSP00000254958.4:n.2373-195T>C
ENST00000423891.6:n.2239-195T>C
NM_000214.2:c.2373-195T>C	NP_000205.1:n.2373-195T>C
NM_000214.3:c.2373-195T>C MANE Select	NP_000205.1:n.2373-195T>C