Canonical Allele Identifier: CA449829260
Gene: NOTCH4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32188552G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220775G>C , CM000668.2:g.32220775G>C GRCh38
NC_000006.11:g.32188552G>C , CM000668.1:g.32188552G>C GRCh37
NC_000006.10:g.32296530G>C NCBI36
NG_028190.1:g.8293C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.903C>G MANE Select ENSP00000364163.3:p.Leu301=
ENST00000473562.1:n.1032C>G
NM_004557.3:c.903C>G NP_004548.3:p.Leu301=
NR_134949.1:n.1042C>G
NR_134950.1:n.1042C>G
NM_004557.4:c.903C>G MANE Select NP_004548.3:p.Leu301=
NR_134949.2:n.1042C>G
NR_134950.2:n.1042C>G