Canonical Allele Identifier: CA311344432

Gene: JAG1

Linked Data

• dbSNP Id: rs569037657
• gnomAD v2: 20-10624712-C-T
• gnomAD v3: 20-10644064-C-T
• gnomAD v4: 20-10644064-C-T
• MyVariant Identifiers: chr20:g.10624712C>T (hg19) ; chr20:g.10644064C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644064C>T , CM000682.2:g.10644064C>T	GRCh38
NC_000020.10:g.10624712C>T , CM000682.1:g.10624712C>T	GRCh37
NC_000020.9:g.10572712C>T	NCBI36
NG_007496.1:g.34983G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2373-201G>A MANE Select	ENSP00000254958.4:n.2373-201G>A
ENST00000617965.2:n.2962-201G>A
ENST00000254958.9:c.2373-201G>A	ENSP00000254958.4:n.2373-201G>A
ENST00000423891.6:n.2239-201G>A
NM_000214.2:c.2373-201G>A	NP_000205.1:n.2373-201G>A
NM_000214.3:c.2373-201G>A MANE Select	NP_000205.1:n.2373-201G>A