Canonical Allele Identifier: CA2583063806
Gene: NOTCH3 HGNC NCBI

Linked Data

gnomAD v4: 19-15184211-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15184211T>C , CM000681.2:g.15184211T>C GRCh38
NC_000019.9:g.15295022T>C , CM000681.1:g.15295022T>C GRCh37
NC_000019.8:g.15156022T>C NCBI36
NG_009819.1:g.21771A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.2566+84A>G MANE Select ENSP00000263388.1:n.2566+84A>G
ENST00000263388.6:c.2566+84A>G ENSP00000263388.1:n.2566+84A>G
ENST00000601011.1:c.2407+695A>G ENSP00000473138.1:n.2407+695A>G
NM_000435.2:c.2566+84A>G NP_000426.2:n.2566+84A>G
XM_005259924.3:c.2410+695A>G XP_005259981.1:n.2410+695A>G
XM_005259924.4:c.2410+695A>G XP_005259981.1:n.2410+695A>G
NM_000435.3:c.2566+84A>G MANE Select NP_000426.2:n.2566+84A>G
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