Canonical Allele Identifier: CA305778063
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1022426982
gnomAD v3: 19-15192215-A-G
gnomAD v4: 19-15192215-A-G
MyVariant Identifiers: chr19:g.15303026A>G (hg19) chr19:g.15192215A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192215A>G , CM000681.2:g.15192215A>G GRCh38
NC_000019.9:g.15303026A>G , CM000681.1:g.15303026A>G GRCh37
NC_000019.8:g.15164026A>G NCBI36
NG_009819.1:g.13767T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.424T>C MANE Select ENSP00000263388.1:p.Phe142Leu
ENST00000263388.6:c.424T>C ENSP00000263388.1:p.Phe142Leu
ENST00000601011.1:c.421T>C ENSP00000473138.1:p.Phe141Leu
NM_000435.2:c.424T>C NP_000426.2:p.Phe142Leu
XM_005259924.3:c.424T>C XP_005259981.1:p.Phe142Leu
XM_005259924.4:c.424T>C XP_005259981.1:p.Phe142Leu
NM_000435.3:c.424T>C MANE Select NP_000426.2:p.Phe142Leu
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