Canonical Allele Identifier: CA9765123

Gene: JAG1

Linked Data

• ClinVar Variation Id: 2901359
• ClinVar RCV Id: RCV003620202 ; RCV004554309
• dbSNP Id: rs747203032
• ExAC: 20:10639337 G / A
• gnomAD v2: 20-10639337-G-A
• gnomAD v4: 20-10658689-G-A
• MyVariant Identifiers: chr20:g.10639337G>A (hg19) ; chr20:g.10658689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658689G>A , CM000682.2:g.10658689G>A	GRCh38
NC_000020.10:g.10639337G>A , CM000682.1:g.10639337G>A	GRCh37
NC_000020.9:g.10587337G>A	NCBI36
NG_007496.1:g.20358C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.473C>T MANE Select	ENSP00000254958.4:p.Ser158Leu
ENST00000254958.9:c.473C>T	ENSP00000254958.4:p.Ser158Leu
ENST00000423891.6:n.339C>T
NM_000214.2:c.473C>T	NP_000205.1:p.Ser158Leu
NM_000214.3:c.473C>T MANE Select	NP_000205.1:p.Ser158Leu