Canonical Allele Identifier: CA136901344
Gene: NOTCH4 HGNC NCBI
dbSNP:
3131296
gnomAD v2:
6:32172993 C / T
gnomAD v3:
6:32205216 C / T
gnomAD v4:
chr6-32205216-C-T
Joint Max Group AF 0.13110344 (NFE)
Genomes Max Group AF 0.13110344 (NFE)
MyVariant.info:
GRCh38 chr6:g.32205216C>T
GRCh37 chr6:g.32172993C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32205216C>T , CM000668.2:g.32205216C>T GRCh38
NC_000006.11:g.32172993C>T , CM000668.1:g.32172993C>T GRCh37
NC_000006.10:g.32280971C>T NCBI36
NG_028190.1:g.23852G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.2866-827G>A MANE Select ENSP00000364163.3:n.2866-827G>A
NM_004557.3:c.2866-827G>A NP_004548.3:n.2866-827G>A
NR_134949.1:n.3107-827G>A
NR_134950.1:n.3005-827G>A
NM_004557.4:c.2866-827G>A MANE Select NP_004548.3:n.2866-827G>A
NR_134949.2:n.3107-827G>A
NR_134950.2:n.3005-827G>A
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