Canonical Allele Identifier: CA136900253
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs762277882
gnomAD v2: 6-32170686-T-C
gnomAD v3: 6-32202909-T-C
gnomAD v4: 6-32202909-T-C
MyVariant Identifiers: chr6:g.32170686T>C (hg19) chr6:g.32202909T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32202909T>C , CM000668.2:g.32202909T>C GRCh38
NC_000006.11:g.32170686T>C , CM000668.1:g.32170686T>C GRCh37
NC_000006.10:g.32278664T>C NCBI36
NG_028190.1:g.26159A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.3232-310A>G MANE Select ENSP00000364163.3:n.3232-310A>G
ENST00000474612.1:n.1008A>G
NM_004557.3:c.3232-310A>G NP_004548.3:n.3232-310A>G
NR_134949.1:n.3472+861A>G
NR_134950.1:n.3370+861A>G
NM_004557.4:c.3232-310A>G MANE Select NP_004548.3:n.3232-310A>G
NR_134949.2:n.3472+861A>G
NR_134950.2:n.3370+861A>G
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