Canonical Allele Identifier: CA324982

Gene: JAG1

Linked Data

• ClinVar Variation Id: 213534
• ClinVar RCV Id: RCV000200413 ; RCV001054389
• dbSNP Id: rs375017114
• ExAC: 20:10628701 G / A
• gnomAD v2: 20-10628701-G-A
• gnomAD v3: 20-10648053-G-A
• gnomAD v4: 20-10648053-G-A
• MyVariant Identifiers: chr20:g.10628701G>A (hg19) ; chr20:g.10648053G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10648053G>A , CM000682.2:g.10648053G>A	GRCh38
NC_000020.10:g.10628701G>A , CM000682.1:g.10628701G>A	GRCh37
NC_000020.9:g.10576701G>A	NCBI36
NG_007496.1:g.30994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.1627C>T MANE Select	ENSP00000254958.4:p.Arg543Cys
ENST00000617965.2:n.2216C>T
ENST00000254958.9:c.1627C>T	ENSP00000254958.4:p.Arg543Cys
ENST00000423891.6:n.1493C>T
ENST00000620743.1:n.684C>T
ENST00000622545.1:c.358C>T
NM_000214.2:c.1627C>T	NP_000205.1:p.Arg543Cys
NM_000214.3:c.1627C>T MANE Select	NP_000205.1:p.Arg543Cys