Canonical Allele Identifier: CA404533915
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192168G>C , CM000681.2:g.15192168G>C GRCh38
NC_000019.9:g.15302979G>C , CM000681.1:g.15302979G>C GRCh37
NC_000019.8:g.15163979G>C NCBI36
NG_009819.1:g.13814C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.471C>G MANE Select ENSP00000263388.1:p.Ser157Arg
ENST00000263388.6:c.471C>G ENSP00000263388.1:p.Ser157Arg
ENST00000601011.1:c.468C>G ENSP00000473138.1:p.Ser156Arg
NM_000435.2:c.471C>G NP_000426.2:p.Ser157Arg
XM_005259924.3:c.471C>G XP_005259981.1:p.Ser157Arg
XM_005259924.4:c.471C>G XP_005259981.1:p.Ser157Arg
NM_000435.3:c.471C>G MANE Select NP_000426.2:p.Ser157Arg