Canonical Allele Identifier: CA404533072
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs751670994
gnomAD v2: 19-15302782-G-T
gnomAD v3: 19-15191971-G-T
gnomAD v4: 19-15191971-G-T
MyVariant Identifiers: chr19:g.15302782G>T (hg19) chr19:g.15191971G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15191971G>T , CM000681.2:g.15191971G>T GRCh38
NC_000019.9:g.15302782G>T , CM000681.1:g.15302782G>T GRCh37
NC_000019.8:g.15163782G>T NCBI36
NG_009819.1:g.14011C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.668C>A MANE Select ENSP00000263388.1:p.Ala223Asp
ENST00000263388.6:c.668C>A ENSP00000263388.1:p.Ala223Asp
ENST00000601011.1:c.665C>A ENSP00000473138.1:p.Ala222Asp
NM_000435.2:c.668C>A NP_000426.2:p.Ala223Asp
XM_005259924.3:c.668C>A XP_005259981.1:p.Ala223Asp
XM_005259924.4:c.668C>A XP_005259981.1:p.Ala223Asp
NM_000435.3:c.668C>A MANE Select NP_000426.2:p.Ala223Asp
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