Canonical Allele Identifier: CA823942666
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1469967632
gnomAD v4: 6-32202883-G-A
MyVariant Identifiers: chr6:g.32170660G>A (hg19) chr6:g.32202883G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32202883G>A , CM000668.2:g.32202883G>A GRCh38
NC_000006.11:g.32170660G>A , CM000668.1:g.32170660G>A GRCh37
NC_000006.10:g.32278638G>A NCBI36
NG_028190.1:g.26185C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.3232-284C>T MANE Select ENSP00000364163.3:n.3232-284C>T
ENST00000474612.1:n.1034C>T
NM_004557.3:c.3232-284C>T NP_004548.3:n.3232-284C>T
NR_134949.1:n.3472+887C>T
NR_134950.1:n.3370+887C>T
NM_004557.4:c.3232-284C>T MANE Select NP_004548.3:n.3232-284C>T
NR_134949.2:n.3472+887C>T
NR_134950.2:n.3370+887C>T
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