Canonical Allele Identifier: CA2678132509
Gene: NOTCH4 HGNC NCBI

Linked Data

gnomAD v4: 6-32202923-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32202923G>A , CM000668.2:g.32202923G>A GRCh38
NC_000006.11:g.32170700G>A , CM000668.1:g.32170700G>A GRCh37
NC_000006.10:g.32278678G>A NCBI36
NG_028190.1:g.26145C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.3232-324C>T MANE Select ENSP00000364163.3:n.3232-324C>T
ENST00000474612.1:n.994C>T
NM_004557.3:c.3232-324C>T NP_004548.3:n.3232-324C>T
NR_134949.1:n.3472+847C>T
NR_134950.1:n.3370+847C>T
NM_004557.4:c.3232-324C>T MANE Select NP_004548.3:n.3232-324C>T
NR_134949.2:n.3472+847C>T
NR_134950.2:n.3370+847C>T