Canonical Allele Identifier: CA311351435

Gene: JAG1

Linked Data

• dbSNP Id: rs142187761
• gnomAD v2: 20-10639033-G-A
• gnomAD v3: 20-10658385-G-A
• gnomAD v4: 20-10658385-G-A
• MyVariant Identifiers: chr20:g.10639033G>A (hg19) ; chr20:g.10658385G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658385G>A , CM000682.2:g.10658385G>A	GRCh38
NC_000020.10:g.10639033G>A , CM000682.1:g.10639033G>A	GRCh37
NC_000020.9:g.10587033G>A	NCBI36
NG_007496.1:g.20662C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.694+83C>T MANE Select	ENSP00000254958.4:n.694+83C>T
ENST00000254958.9:c.694+83C>T	ENSP00000254958.4:n.694+83C>T
ENST00000423891.6:n.560+83C>T
NM_000214.2:c.694+83C>T	NP_000205.1:n.694+83C>T
NM_000214.3:c.694+83C>T MANE Select	NP_000205.1:n.694+83C>T