Canonical Allele Identifier: CA321634

Gene: JAG1

Linked Data

• ClinVar Variation Id: 213535
• ClinVar RCV Id: RCV000197189 ; RCV000351515 ; RCV001062019 ; RCV002247622 ; RCV004553067
• dbSNP Id: rs199505265
• ExAC: 20:10627646 G / A
• gnomAD v2: 20-10627646-G-A
• gnomAD v3: 20-10646998-G-A
• gnomAD v4: 20-10646998-G-A
• MyVariant Identifiers: chr20:g.10627646G>A (hg19) ; chr20:g.10646998G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10646998G>A , CM000682.2:g.10646998G>A	GRCh38
NC_000020.10:g.10627646G>A , CM000682.1:g.10627646G>A	GRCh37
NC_000020.9:g.10575646G>A	NCBI36
NG_007496.1:g.32049C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.1826C>T MANE Select	ENSP00000254958.4:p.Ser609Leu
ENST00000617965.2:n.2415C>T
ENST00000254958.9:c.1826C>T	ENSP00000254958.4:p.Ser609Leu
ENST00000423891.6:n.1692C>T
ENST00000612857.1:n.315C>T
ENST00000613518.1:c.175C>T
NM_000214.2:c.1826C>T	NP_000205.1:p.Ser609Leu
NM_000214.3:c.1826C>T MANE Select	NP_000205.1:p.Ser609Leu