Canonical Allele Identifier: CA3740105

Gene: NOTCH4

Linked Data

• ClinVar Variation Id: 2593754
• ClinVar RCV Id: RCV004337728
• dbSNP Id: rs763926116
• ExAC: 6:32188404 C / T
• gnomAD v2: 6-32188404-C-T
• gnomAD v3: 6-32220627-C-T
• gnomAD v4: 6-32220627-C-T
• MyVariant Identifiers: chr6:g.32188404C>T (hg19) ; chr6:g.32220627C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32220627C>T , CM000668.2:g.32220627C>T	GRCh38
NC_000006.11:g.32188404C>T , CM000668.1:g.32188404C>T	GRCh37
NC_000006.10:g.32296382C>T	NCBI36
NG_028190.1:g.8441G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375023.3:c.937G>A MANE Select	ENSP00000364163.3:p.Glu313Lys
ENST00000473562.1:n.1066G>A
NM_004557.3:c.937G>A	NP_004548.3:p.Glu313Lys
NR_134949.1:n.1076G>A
NR_134950.1:n.1076G>A
NM_004557.4:c.937G>A MANE Select	NP_004548.3:p.Glu313Lys
NR_134949.2:n.1076G>A
NR_134950.2:n.1076G>A