Canonical Allele Identifier: CA449829292
Gene: NOTCH4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32188576A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220799A>G , CM000668.2:g.32220799A>G GRCh38
NC_000006.11:g.32188576A>G , CM000668.1:g.32188576A>G GRCh37
NC_000006.10:g.32296554A>G NCBI36
NG_028190.1:g.8269T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.879T>C MANE Select ENSP00000364163.3:p.Asp293=
ENST00000473562.1:n.1008T>C
NM_004557.3:c.879T>C NP_004548.3:p.Asp293=
NR_134949.1:n.1018T>C
NR_134950.1:n.1018T>C
NM_004557.4:c.879T>C MANE Select NP_004548.3:p.Asp293=
NR_134949.2:n.1018T>C
NR_134950.2:n.1018T>C