Canonical Allele Identifier: CA9263837
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs746398806
ExAC: 19:15302800 T / C
gnomAD v2: 19-15302800-T-C
gnomAD v3: 19-15191989-T-C
gnomAD v4: 19-15191989-T-C
MyVariant Identifiers: chr19:g.15302800T>C (hg19) chr19:g.15191989T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191989T>C , CM000681.2:g.15191989T>C GRCh38
NC_000019.9:g.15302800T>C , CM000681.1:g.15302800T>C GRCh37
NC_000019.8:g.15163800T>C NCBI36
NG_009819.1:g.13993A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.650A>G MANE Select ENSP00000263388.1:p.Asp217Gly
ENST00000263388.6:c.650A>G ENSP00000263388.1:p.Asp217Gly
ENST00000601011.1:c.647A>G ENSP00000473138.1:p.Asp216Gly
NM_000435.2:c.650A>G NP_000426.2:p.Asp217Gly
XM_005259924.3:c.650A>G XP_005259981.1:p.Asp217Gly
XM_005259924.4:c.650A>G XP_005259981.1:p.Asp217Gly
NM_000435.3:c.650A>G MANE Select NP_000426.2:p.Asp217Gly
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