Canonical Allele Identifier: CA9765048

Gene: JAG1

Linked Data

• ClinVar Variation Id: 337757
• ClinVar RCV Id: RCV000400703 ; RCV002057726
• dbSNP Id: rs757351921
• ExAC: 20:10633260 G / A
• gnomAD v2: 20-10633260-G-A
• gnomAD v4: 20-10652612-G-A
• MyVariant Identifiers: chr20:g.10633260G>A (hg19) ; chr20:g.10652612G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10652612G>A , CM000682.2:g.10652612G>A	GRCh38
NC_000020.10:g.10633260G>A , CM000682.1:g.10633260G>A	GRCh37
NC_000020.9:g.10581260G>A	NCBI36
NG_007496.1:g.26435C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.756-14C>T MANE Select	ENSP00000254958.4:n.756-14C>T
ENST00000617965.2:n.111C>T
ENST00000254958.9:c.756-14C>T	ENSP00000254958.4:n.756-14C>T
ENST00000423891.6:n.622-14C>T
ENST00000617965.1:n.111C>T
NM_000214.2:c.756-14C>T	NP_000205.1:n.756-14C>T
NM_000214.3:c.756-14C>T MANE Select	NP_000205.1:n.756-14C>T