Canonical Allele Identifier: CA404525201
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2145433109

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187248A>G , CM000681.2:g.15187248A>G GRCh38
NC_000019.9:g.15298059A>G , CM000681.1:g.15298059A>G GRCh37
NC_000019.8:g.15159059A>G NCBI36
NG_009819.1:g.18734T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1697T>C MANE Select ENSP00000263388.1:p.Phe566Ser
ENST00000263388.6:c.1697T>C ENSP00000263388.1:p.Phe566Ser
ENST00000601011.1:c.1694T>C ENSP00000473138.1:p.Phe565Ser
NM_000435.2:c.1697T>C NP_000426.2:p.Phe566Ser
XM_005259924.3:c.1697T>C XP_005259981.1:p.Phe566Ser
XM_005259924.4:c.1697T>C XP_005259981.1:p.Phe566Ser
NM_000435.3:c.1697T>C MANE Select NP_000426.2:p.Phe566Ser