Canonical Allele Identifier: CA10649345
Gene: JAG1 HGNC NCBI
SLX4IP HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.10637926T>C
GRCh37 chr20:g.10618574T>C
gnomAD v2:
20:10618574 T / C
gnomAD v3:
20:10637926 T / C
gnomAD v4:
chr20-10637926-T-C
Joint Max Group AF 0.58126912 (NFE)
Genomes Max Group AF 0.5812919 (NFE)
Exomes Max Group AF 0.05922656 (NFE)
ClinVar RCV:
RCV000366943
RCV001711956
ClinVar Variation:
337715
dbSNP:
8708
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10637926T>C , CM000682.2:g.10637926T>C GRCh38
NC_000020.10:g.10618574T>C , CM000682.1:g.10618574T>C GRCh37
NC_000020.9:g.10566574T>C NCBI36
NG_007496.1:g.41121A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.*1572A>G (JAG1) MANE Select ENSP00000254958.4:n.*1572A>G
ENST00000254958.9:c.*1572A>G (JAG1) ENSP00000254958.4:n.*1572A>G
ENST00000423891.6:n.3591A>G (JAG1)
NM_000214.2:c.*1572A>G (JAG1) NP_000205.1:n.*1572A>G
XM_011529163.1:c.*1300T>C (SLX4IP) XP_011527465.1:n.*1300T>C
NM_000214.3:c.*1572A>G (JAG1) MANE Select NP_000205.1:n.*1572A>G
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