Canonical Allele Identifier: CA404533184
Gene: NOTCH3 HGNC NCBI

Linked Data

gnomAD v4: 19-15191998-T-G
MyVariant Identifiers: chr19:g.15302809T>G (hg19) chr19:g.15191998T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191998T>G , CM000681.2:g.15191998T>G GRCh38
NC_000019.9:g.15302809T>G , CM000681.1:g.15302809T>G GRCh37
NC_000019.8:g.15163809T>G NCBI36
NG_009819.1:g.13984A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.641A>C MANE Select ENSP00000263388.1:p.Gln214Pro
ENST00000263388.6:c.641A>C ENSP00000263388.1:p.Gln214Pro
ENST00000601011.1:c.638A>C ENSP00000473138.1:p.Gln213Pro
NM_000435.2:c.641A>C NP_000426.2:p.Gln214Pro
XM_005259924.3:c.641A>C XP_005259981.1:p.Gln214Pro
XM_005259924.4:c.641A>C XP_005259981.1:p.Gln214Pro
NM_000435.3:c.641A>C MANE Select NP_000426.2:p.Gln214Pro
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