Canonical Allele Identifier: CA2349882334

Gene: JAG1

Linked Data

• dbSNP Id: rs2067295588

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644666A>G , CM000682.2:g.10644666A>G	GRCh38
NC_000020.10:g.10625314A>G , CM000682.1:g.10625314A>G	GRCh37
NC_000020.9:g.10573314A>G	NCBI36
NG_007496.1:g.34381T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2344+197T>C MANE Select	ENSP00000254958.4:n.2344+197T>C
ENST00000617965.2:n.2933+197T>C
ENST00000254958.9:c.2344+197T>C	ENSP00000254958.4:n.2344+197T>C
ENST00000423891.6:n.2210+197T>C
ENST00000488480.2:n.938T>C
NM_000214.2:c.2344+197T>C	NP_000205.1:n.2344+197T>C
NM_000214.3:c.2344+197T>C MANE Select	NP_000205.1:n.2344+197T>C