Canonical Allele Identifier: CA404533272
Gene: NOTCH3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15192017T>G , CM000681.2:g.15192017T>G GRCh38
NC_000019.9:g.15302828T>G , CM000681.1:g.15302828T>G GRCh37
NC_000019.8:g.15163828T>G NCBI36
NG_009819.1:g.13965A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.622A>C MANE Select ENSP00000263388.1:p.Asn208His
ENST00000263388.6:c.622A>C ENSP00000263388.1:p.Asn208His
ENST00000601011.1:c.619A>C ENSP00000473138.1:p.Asn207His
NM_000435.2:c.622A>C NP_000426.2:p.Asn208His
XM_005259924.3:c.622A>C XP_005259981.1:p.Asn208His
XM_005259924.4:c.622A>C XP_005259981.1:p.Asn208His
NM_000435.3:c.622A>C MANE Select NP_000426.2:p.Asn208His