Canonical Allele Identifier: CA363558597

Gene: NOTCH4

Linked Data

• MyVariant Identifiers: chr6:g.32190339G>A (hg19) ; chr6:g.32222562G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32222562G>A , CM000668.2:g.32222562G>A	GRCh38
NC_000006.11:g.32190339G>A , CM000668.1:g.32190339G>A	GRCh37
NC_000006.10:g.32298317G>A	NCBI36
NG_028190.1:g.6506C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375023.3:c.400C>T MANE Select	ENSP00000364163.3:p.His134Tyr
ENST00000473562.1:n.529C>T
NM_004557.3:c.400C>T	NP_004548.3:p.His134Tyr
NR_134949.1:n.539C>T
NR_134950.1:n.539C>T
NM_004557.4:c.400C>T MANE Select	NP_004548.3:p.His134Tyr
NR_134949.2:n.539C>T
NR_134950.2:n.539C>T