Canonical Allele Identifier: CA311357653

Gene: JAG1

Linked Data

• dbSNP Id: rs377227562
• gnomAD v2: 20-10654419-A-G
• gnomAD v3: 20-10673771-A-G
• gnomAD v4: 20-10673771-A-G
• MyVariant Identifiers: chr20:g.10654419A>G (hg19) ; chr20:g.10673771A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10673771A>G , CM000682.2:g.10673771A>G	GRCh38
NC_000020.10:g.10654419A>G , CM000682.1:g.10654419A>G	GRCh37
NC_000020.9:g.10602419A>G	NCBI36
NG_007496.1:g.5276T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.-241T>C MANE Select	ENSP00000254958.4:n.-241T>C
ENST00000254958.9:c.-241T>C	ENSP00000254958.4:n.-241T>C
NM_000214.2:c.-241T>C	NP_000205.1:n.-241T>C
NM_000214.3:c.-241T>C MANE Select	NP_000205.1:n.-241T>C