Canonical Allele Identifier: CA2678132108
Gene: NOTCH4 HGNC NCBI

Linked Data

gnomAD v4: 6-32202695-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32202695C>T , CM000668.2:g.32202695C>T GRCh38
NC_000006.11:g.32170472C>T , CM000668.1:g.32170472C>T GRCh37
NC_000006.10:g.32278450C>T NCBI36
NG_028190.1:g.26373G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.3232-96G>A MANE Select ENSP00000364163.3:n.3232-96G>A
ENST00000474612.1:n.1222G>A
NM_004557.3:c.3232-96G>A NP_004548.3:n.3232-96G>A
NR_134949.1:n.3472+1075G>A
NR_134950.1:n.3370+1075G>A
NM_004557.4:c.3232-96G>A MANE Select NP_004548.3:n.3232-96G>A
NR_134949.2:n.3472+1075G>A
NR_134950.2:n.3370+1075G>A