Canonical Allele Identifier: CA408239934

Gene: JAG1

Linked Data

• MyVariant Identifiers: chr20:g.10639138C>A (hg19) ; chr20:g.10658490C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658490C>A , CM000682.2:g.10658490C>A	GRCh38
NC_000020.10:g.10639138C>A , CM000682.1:g.10639138C>A	GRCh37
NC_000020.9:g.10587138C>A	NCBI36
NG_007496.1:g.20557G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.672G>T MANE Select	ENSP00000254958.4:p.Trp224Cys
ENST00000254958.9:c.672G>T	ENSP00000254958.4:p.Trp224Cys
ENST00000423891.6:n.538G>T
NM_000214.2:c.672G>T	NP_000205.1:p.Trp224Cys
NM_000214.3:c.672G>T MANE Select	NP_000205.1:p.Trp224Cys