Canonical Allele Identifier: CA305774666
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs371526861
gnomAD v3: 19-15186912-G-T
gnomAD v4: 19-15186912-G-T
MyVariant Identifiers: chr19:g.15297723G>T (hg19) chr19:g.15186912G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15186912G>T , CM000681.2:g.15186912G>T GRCh38
NC_000019.9:g.15297723G>T , CM000681.1:g.15297723G>T GRCh37
NC_000019.8:g.15158723G>T NCBI36
NG_009819.1:g.19070C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1917C>A MANE Select ENSP00000263388.1:p.Asn639Lys
ENST00000263388.6:c.1917C>A ENSP00000263388.1:p.Asn639Lys
ENST00000601011.1:c.1914C>A ENSP00000473138.1:p.Asn638Lys
NM_000435.2:c.1917C>A NP_000426.2:p.Asn639Lys
XM_005259924.3:c.1917C>A XP_005259981.1:p.Asn639Lys
XM_005259924.4:c.1917C>A XP_005259981.1:p.Asn639Lys
NM_000435.3:c.1917C>A MANE Select NP_000426.2:p.Asn639Lys
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