Canonical Allele Identifier: CA506078743
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2145441714
MyVariant Identifiers: chr19:g.15302904G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192093G>C , CM000681.2:g.15192093G>C GRCh38
NC_000019.9:g.15302904G>C , CM000681.1:g.15302904G>C GRCh37
NC_000019.8:g.15163904G>C NCBI36
NG_009819.1:g.13889C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.546C>G MANE Select ENSP00000263388.1:p.Arg182=
ENST00000263388.6:c.546C>G ENSP00000263388.1:p.Arg182=
ENST00000601011.1:c.543C>G ENSP00000473138.1:p.Arg181=
NM_000435.2:c.546C>G NP_000426.2:p.Arg182=
XM_005259924.3:c.546C>G XP_005259981.1:p.Arg182=
XM_005259924.4:c.546C>G XP_005259981.1:p.Arg182=
NM_000435.3:c.546C>G MANE Select NP_000426.2:p.Arg182=
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