Canonical Allele Identifier: CA9263145
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs777978764
ExAC: 19:15290934 G / C
gnomAD v2: 19-15290934-G-C
gnomAD v4: 19-15180123-G-C
MyVariant Identifiers: chr19:g.15290934G>C (hg19) chr19:g.15180123G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180123G>C , CM000681.2:g.15180123G>C GRCh38
NC_000019.9:g.15290934G>C , CM000681.1:g.15290934G>C GRCh37
NC_000019.8:g.15151934G>C NCBI36
NG_009819.1:g.25859C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3276C>G MANE Select ENSP00000263388.1:p.Pro1092=
ENST00000263388.6:c.3276C>G ENSP00000263388.1:p.Pro1092=
ENST00000601011.1:c.3117C>G ENSP00000473138.1:p.Pro1039=
NM_000435.2:c.3276C>G NP_000426.2:p.Pro1092=
XM_005259924.3:c.3120C>G XP_005259981.1:p.Pro1040=
XM_005259924.4:c.3120C>G XP_005259981.1:p.Pro1040=
NM_000435.3:c.3276C>G MANE Select NP_000426.2:p.Pro1092=
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