Canonical Allele Identifier: CA363557275
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1789692468
gnomAD v4: 6-32220572-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220572G>C , CM000668.2:g.32220572G>C GRCh38
NC_000006.11:g.32188349G>C , CM000668.1:g.32188349G>C GRCh37
NC_000006.10:g.32296327G>C NCBI36
NG_028190.1:g.8496C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.992C>G MANE Select ENSP00000364163.3:p.Thr331Ser
ENST00000473562.1:n.1121C>G
NM_004557.3:c.992C>G NP_004548.3:p.Thr331Ser
NR_134949.1:n.1131C>G
NR_134950.1:n.1131C>G
NM_004557.4:c.992C>G MANE Select NP_004548.3:p.Thr331Ser
NR_134949.2:n.1131C>G
NR_134950.2:n.1131C>G