Canonical Allele Identifier: CA136913680

Gene: NOTCH4

Linked Data

• dbSNP Id: rs977149503
• gnomAD v2: 6-32188709-C-T
• gnomAD v3: 6-32220932-C-T
• gnomAD v4: 6-32220932-C-T
• MyVariant Identifiers: chr6:g.32188709C>T (hg19) ; chr6:g.32220932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32220932C>T , CM000668.2:g.32220932C>T	GRCh38
NC_000006.11:g.32188709C>T , CM000668.1:g.32188709C>T	GRCh37
NC_000006.10:g.32296687C>T	NCBI36
NG_028190.1:g.8136G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375023.3:c.799+46G>A MANE Select	ENSP00000364163.3:n.799+46G>A
ENST00000473562.1:n.928+46G>A
NM_004557.3:c.799+46G>A	NP_004548.3:n.799+46G>A
NR_134949.1:n.938+46G>A
NR_134950.1:n.938+46G>A
NM_004557.4:c.799+46G>A MANE Select	NP_004548.3:n.799+46G>A
NR_134949.2:n.938+46G>A
NR_134950.2:n.938+46G>A