Canonical Allele Identifier: CA3740124

Gene: NOTCH4

Linked Data

• dbSNP Id: rs201261317
• ExAC: 6:32188518 G / A
• gnomAD v2: 6-32188518-G-A
• gnomAD v3: 6-32220741-G-A
• gnomAD v4: 6-32220741-G-A
• MyVariant Identifiers: chr6:g.32188518G>A (hg19) ; chr6:g.32220741G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32220741G>A , CM000668.2:g.32220741G>A	GRCh38
NC_000006.11:g.32188518G>A , CM000668.1:g.32188518G>A	GRCh37
NC_000006.10:g.32296496G>A	NCBI36
NG_028190.1:g.8327C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375023.3:c.922+15C>T MANE Select	ENSP00000364163.3:n.922+15C>T
ENST00000473562.1:n.1051+15C>T
NM_004557.3:c.922+15C>T	NP_004548.3:n.922+15C>T
NR_134949.1:n.1061+15C>T
NR_134950.1:n.1061+15C>T
NM_004557.4:c.922+15C>T MANE Select	NP_004548.3:n.922+15C>T
NR_134949.2:n.1061+15C>T
NR_134950.2:n.1061+15C>T