Canonical Allele Identifier: CA363557543

Gene: NOTCH4

Linked Data

• MyVariant Identifiers: chr6:g.32188577T>G (hg19) ; chr6:g.32220800T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32220800T>G , CM000668.2:g.32220800T>G	GRCh38
NC_000006.11:g.32188577T>G , CM000668.1:g.32188577T>G	GRCh37
NC_000006.10:g.32296555T>G	NCBI36
NG_028190.1:g.8268A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375023.3:c.878A>C MANE Select	ENSP00000364163.3:p.Asp293Ala
ENST00000473562.1:n.1007A>C
NM_004557.3:c.878A>C	NP_004548.3:p.Asp293Ala
NR_134949.1:n.1017A>C
NR_134950.1:n.1017A>C
NM_004557.4:c.878A>C MANE Select	NP_004548.3:p.Asp293Ala
NR_134949.2:n.1017A>C
NR_134950.2:n.1017A>C