Canonical Allele Identifier: CA408239348

Gene: JAG1

Linked Data

• MyVariant Identifiers: chr20:g.10633183G>T (hg19) ; chr20:g.10652535G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10652535G>T , CM000682.2:g.10652535G>T	GRCh38
NC_000020.10:g.10633183G>T , CM000682.1:g.10633183G>T	GRCh37
NC_000020.9:g.10581183G>T	NCBI36
NG_007496.1:g.26512C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.819C>A MANE Select	ENSP00000254958.4:p.His273Gln
ENST00000617965.2:n.188C>A
ENST00000254958.9:c.819C>A	ENSP00000254958.4:p.His273Gln
ENST00000423891.6:n.685C>A
ENST00000617965.1:n.188C>A
NM_000214.2:c.819C>A	NP_000205.1:p.His273Gln
NM_000214.3:c.819C>A MANE Select	NP_000205.1:p.His273Gln