Canonical Allele Identifier: CA311357642

Gene: JAG1

Linked Data

• dbSNP Id: rs756190529
• gnomAD v2: 20-10654400-T-G
• gnomAD v3: 20-10673752-T-G
• gnomAD v4: 20-10673752-T-G
• MyVariant Identifiers: chr20:g.10654400T>G (hg19) ; chr20:g.10673752T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10673752T>G , CM000682.2:g.10673752T>G	GRCh38
NC_000020.10:g.10654400T>G , CM000682.1:g.10654400T>G	GRCh37
NC_000020.9:g.10602400T>G	NCBI36
NG_007496.1:g.5295A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.-222A>C MANE Select	ENSP00000254958.4:n.-222A>C
ENST00000254958.9:c.-222A>C	ENSP00000254958.4:n.-222A>C
NM_000214.2:c.-222A>C	NP_000205.1:n.-222A>C
NM_000214.3:c.-222A>C MANE Select	NP_000205.1:n.-222A>C