Canonical Allele Identifier: CA9263121
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs766128093
ExAC: 19:15290842 T / C
gnomAD v2: 19-15290842-T-C
gnomAD v4: 19-15180031-T-C
MyVariant Identifiers: chr19:g.15290842T>C (hg19) chr19:g.15180031T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180031T>C , CM000681.2:g.15180031T>C GRCh38
NC_000019.9:g.15290842T>C , CM000681.1:g.15290842T>C GRCh37
NC_000019.8:g.15151842T>C NCBI36
NG_009819.1:g.25951A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3327+41A>G MANE Select ENSP00000263388.1:n.3327+41A>G
ENST00000263388.6:c.3327+41A>G ENSP00000263388.1:n.3327+41A>G
ENST00000601011.1:c.3168+41A>G ENSP00000473138.1:n.3168+41A>G
NM_000435.2:c.3327+41A>G NP_000426.2:n.3327+41A>G
XM_005259924.3:c.3171+41A>G XP_005259981.1:n.3171+41A>G
XM_005259924.4:c.3171+41A>G XP_005259981.1:n.3171+41A>G
NM_000435.3:c.3327+41A>G MANE Select NP_000426.2:n.3327+41A>G
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