Canonical Allele Identifier: CA404533223
Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 812745
ClinVar RCV Id: RCV001003547
dbSNP Id: rs1555729455
MyVariant Identifiers: chr19:g.15302816A>G (hg19) chr19:g.15192005A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192005A>G , CM000681.2:g.15192005A>G GRCh38
NC_000019.9:g.15302816A>G , CM000681.1:g.15302816A>G GRCh37
NC_000019.8:g.15163816A>G NCBI36
NG_009819.1:g.13977T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.634T>C MANE Select ENSP00000263388.1:p.Cys212Arg
ENST00000263388.6:c.634T>C ENSP00000263388.1:p.Cys212Arg
ENST00000601011.1:c.631T>C ENSP00000473138.1:p.Cys211Arg
NM_000435.2:c.634T>C NP_000426.2:p.Cys212Arg
XM_005259924.3:c.634T>C XP_005259981.1:p.Cys212Arg
XM_005259924.4:c.634T>C XP_005259981.1:p.Cys212Arg
NM_000435.3:c.634T>C MANE Select NP_000426.2:p.Cys212Arg
Search 100 bp 5'
Search 100 bp 3'