Canonical Allele Identifier: CA136900254
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs142708198
gnomAD v2: 6-32170707-A-G
gnomAD v3: 6-32202930-A-G
gnomAD v4: 6-32202930-A-G
MyVariant Identifiers: chr6:g.32170707A>G (hg19) chr6:g.32202930A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32202930A>G , CM000668.2:g.32202930A>G GRCh38
NC_000006.11:g.32170707A>G , CM000668.1:g.32170707A>G GRCh37
NC_000006.10:g.32278685A>G NCBI36
NG_028190.1:g.26138T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.3232-331T>C MANE Select ENSP00000364163.3:n.3232-331T>C
ENST00000474612.1:n.987T>C
NM_004557.3:c.3232-331T>C NP_004548.3:n.3232-331T>C
NR_134949.1:n.3472+840T>C
NR_134950.1:n.3370+840T>C
NM_004557.4:c.3232-331T>C MANE Select NP_004548.3:n.3232-331T>C
NR_134949.2:n.3472+840T>C
NR_134950.2:n.3370+840T>C
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