Canonical Allele Identifier: CA363558778
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs140979766
gnomAD v3: 6-32222646-G-C
gnomAD v4: 6-32222646-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32222646G>C , CM000668.2:g.32222646G>C GRCh38
NC_000006.11:g.32190423G>C , CM000668.1:g.32190423G>C GRCh37
NC_000006.10:g.32298401G>C NCBI36
NG_028190.1:g.6422C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.316C>G MANE Select ENSP00000364163.3:p.Leu106Val
ENST00000473562.1:n.445C>G
NM_004557.3:c.316C>G NP_004548.3:p.Leu106Val
NR_134949.1:n.455C>G
NR_134950.1:n.455C>G
NM_004557.4:c.316C>G MANE Select NP_004548.3:p.Leu106Val
NR_134949.2:n.455C>G
NR_134950.2:n.455C>G