Canonical Allele Identifier: CA363557578

Gene: NOTCH4

Linked Data

• MyVariant Identifiers: chr6:g.32188593C>T (hg19) ; chr6:g.32220816C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32220816C>T , CM000668.2:g.32220816C>T	GRCh38
NC_000006.11:g.32188593C>T , CM000668.1:g.32188593C>T	GRCh37
NC_000006.10:g.32296571C>T	NCBI36
NG_028190.1:g.8252G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375023.3:c.862G>A MANE Select	ENSP00000364163.3:p.Gly288Arg
ENST00000473562.1:n.991G>A
NM_004557.3:c.862G>A	NP_004548.3:p.Gly288Arg
NR_134949.1:n.1001G>A
NR_134950.1:n.1001G>A
NM_004557.4:c.862G>A MANE Select	NP_004548.3:p.Gly288Arg
NR_134949.2:n.1001G>A
NR_134950.2:n.1001G>A