Canonical Allele Identifier: CA3740113

Gene: NOTCH4

Linked Data

• dbSNP Id: rs758810711
• ExAC: 6:32188441 C / T
• gnomAD v2: 6-32188441-C-T
• gnomAD v3: 6-32220664-C-T
• gnomAD v4: 6-32220664-C-T
• MyVariant Identifiers: chr6:g.32188441C>T (hg19) ; chr6:g.32220664C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32220664C>T , CM000668.2:g.32220664C>T	GRCh38
NC_000006.11:g.32188441C>T , CM000668.1:g.32188441C>T	GRCh37
NC_000006.10:g.32296419C>T	NCBI36
NG_028190.1:g.8404G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375023.3:c.923-23G>A MANE Select	ENSP00000364163.3:n.923-23G>A
ENST00000473562.1:n.1052-23G>A
NM_004557.3:c.923-23G>A	NP_004548.3:n.923-23G>A
NR_134949.1:n.1062-23G>A
NR_134950.1:n.1062-23G>A
NM_004557.4:c.923-23G>A MANE Select	NP_004548.3:n.923-23G>A
NR_134949.2:n.1062-23G>A
NR_134950.2:n.1062-23G>A