Canonical Allele Identifier: CA404533949
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2145442121

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192178C>T , CM000681.2:g.15192178C>T GRCh38
NC_000019.9:g.15302989C>T , CM000681.1:g.15302989C>T GRCh37
NC_000019.8:g.15163989C>T NCBI36
NG_009819.1:g.13804G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.461G>A MANE Select ENSP00000263388.1:p.Ser154Asn
ENST00000263388.6:c.461G>A ENSP00000263388.1:p.Ser154Asn
ENST00000601011.1:c.458G>A ENSP00000473138.1:p.Ser153Asn
NM_000435.2:c.461G>A NP_000426.2:p.Ser154Asn
XM_005259924.3:c.461G>A XP_005259981.1:p.Ser154Asn
XM_005259924.4:c.461G>A XP_005259981.1:p.Ser154Asn
NM_000435.3:c.461G>A MANE Select NP_000426.2:p.Ser154Asn