Canonical Allele Identifier: CA363558831
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs2127490939
MyVariant Identifiers: chr6:g.32190448C>A (hg19) chr6:g.32222671C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32222671C>A , CM000668.2:g.32222671C>A GRCh38
NC_000006.11:g.32190448C>A , CM000668.1:g.32190448C>A GRCh37
NC_000006.10:g.32298426C>A NCBI36
NG_028190.1:g.6397G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.291G>T MANE Select ENSP00000364163.3:p.Leu97Phe
ENST00000473562.1:n.420G>T
NM_004557.3:c.291G>T NP_004548.3:p.Leu97Phe
NR_134949.1:n.430G>T
NR_134950.1:n.430G>T
NM_004557.4:c.291G>T MANE Select NP_004548.3:p.Leu97Phe
NR_134949.2:n.430G>T
NR_134950.2:n.430G>T
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