Canonical Allele Identifier: CA12350937
Gene: NOTCH4 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32216568T>C
GRCh37 chr6:g.32184345T>C
gnomAD v2:
6:32184345 T / C
gnomAD v3:
6:32216568 T / C
gnomAD v4:
chr6-32216568-T-C
Joint Max Group AF 0.4242041 (EAS)
Genomes Max Group AF 0.42263562 (EAS)
Exomes Max Group AF 0.41907811 (EAS)
dbSNP:
404860
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32216568T>C , CM000668.2:g.32216568T>C GRCh38
NC_000006.11:g.32184345T>C , CM000668.1:g.32184345T>C GRCh37
NC_000006.10:g.32292323T>C NCBI36
NG_028190.1:g.12500A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1861+377A>G MANE Select ENSP00000364163.3:n.1861+377A>G
ENST00000473562.1:n.2367A>G
NM_004557.3:c.1861+377A>G NP_004548.3:n.1861+377A>G
NR_134949.1:n.2102+377A>G
NR_134950.1:n.2000+377A>G
NM_004557.4:c.1861+377A>G MANE Select NP_004548.3:n.1861+377A>G
NR_134949.2:n.2102+377A>G
NR_134950.2:n.2000+377A>G
Search 100 bp 5'
Search 100 bp 3'