Canonical Allele Identifier: CA632128087
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1252298913
gnomAD v2: 19-15302492-C-G
gnomAD v4: 19-15191681-C-G
MyVariant Identifiers: chr19:g.15302492C>G (hg19) chr19:g.15191681C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191681C>G , CM000681.2:g.15191681C>G GRCh38
NC_000019.9:g.15302492C>G , CM000681.1:g.15302492C>G GRCh37
NC_000019.8:g.15163492C>G NCBI36
NG_009819.1:g.14301G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.803-24G>C MANE Select ENSP00000263388.1:n.803-24G>C
ENST00000263388.6:c.803-24G>C ENSP00000263388.1:n.803-24G>C
ENST00000601011.1:c.800-24G>C ENSP00000473138.1:n.800-24G>C
NM_000435.2:c.803-24G>C NP_000426.2:n.803-24G>C
XM_005259924.3:c.803-24G>C XP_005259981.1:n.803-24G>C
XM_005259924.4:c.803-24G>C XP_005259981.1:n.803-24G>C
NM_000435.3:c.803-24G>C MANE Select NP_000426.2:n.803-24G>C
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