Canonical Allele Identifier: CA363557511
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1296518109
gnomAD v2: 6-32188562-T-C
gnomAD v3: 6-32220785-T-C
gnomAD v4: 6-32220785-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220785T>C , CM000668.2:g.32220785T>C GRCh38
NC_000006.11:g.32188562T>C , CM000668.1:g.32188562T>C GRCh37
NC_000006.10:g.32296540T>C NCBI36
NG_028190.1:g.8283A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.893A>G MANE Select ENSP00000364163.3:p.Tyr298Cys
ENST00000473562.1:n.1022A>G
NM_004557.3:c.893A>G NP_004548.3:p.Tyr298Cys
NR_134949.1:n.1032A>G
NR_134950.1:n.1032A>G
NM_004557.4:c.893A>G MANE Select NP_004548.3:p.Tyr298Cys
NR_134949.2:n.1032A>G
NR_134950.2:n.1032A>G