Canonical Allele Identifier: CA408238585
Gene: JAG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.10630996C>A (hg19) chr20:g.10650348C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10650348C>A , CM000682.2:g.10650348C>A GRCh38
NC_000020.10:g.10630996C>A , CM000682.1:g.10630996C>A GRCh37
NC_000020.9:g.10578996C>A NCBI36
NG_007496.1:g.28699G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.1133G>T MANE Select ENSP00000254958.4:p.Cys378Phe
ENST00000617965.2:n.1722G>T
ENST00000254958.9:c.1133G>T ENSP00000254958.4:p.Cys378Phe
ENST00000423891.6:n.999G>T
NM_000214.2:c.1133G>T NP_000205.1:p.Cys378Phe
NM_000214.3:c.1133G>T MANE Select NP_000205.1:p.Cys378Phe
Search 100 bp 5'
Search 100 bp 3'