Canonical Allele Identifier: CA136900250
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1021868768
gnomAD v3: 6-32202902-A-G
gnomAD v4: 6-32202902-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32202902A>G , CM000668.2:g.32202902A>G GRCh38
NC_000006.11:g.32170679A>G , CM000668.1:g.32170679A>G GRCh37
NC_000006.10:g.32278657A>G NCBI36
NG_028190.1:g.26166T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.3232-303T>C MANE Select ENSP00000364163.3:n.3232-303T>C
ENST00000474612.1:n.1015T>C
NM_004557.3:c.3232-303T>C NP_004548.3:n.3232-303T>C
NR_134949.1:n.3472+868T>C
NR_134950.1:n.3370+868T>C
NM_004557.4:c.3232-303T>C MANE Select NP_004548.3:n.3232-303T>C
NR_134949.2:n.3472+868T>C
NR_134950.2:n.3370+868T>C