Canonical Allele Identifier: CA2678132242
Gene: NOTCH4 HGNC NCBI

Linked Data

gnomAD v4: 6-32202753-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32202753G>A , CM000668.2:g.32202753G>A GRCh38
NC_000006.11:g.32170530G>A , CM000668.1:g.32170530G>A GRCh37
NC_000006.10:g.32278508G>A NCBI36
NG_028190.1:g.26315C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.3232-154C>T MANE Select ENSP00000364163.3:n.3232-154C>T
ENST00000474612.1:n.1164C>T
NM_004557.3:c.3232-154C>T NP_004548.3:n.3232-154C>T
NR_134949.1:n.3472+1017C>T
NR_134950.1:n.3370+1017C>T
NM_004557.4:c.3232-154C>T MANE Select NP_004548.3:n.3232-154C>T
NR_134949.2:n.3472+1017C>T
NR_134950.2:n.3370+1017C>T
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