Canonical Allele Identifier: CA404512873
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1268676282

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180079A>C , CM000681.2:g.15180079A>C GRCh38
NC_000019.9:g.15290890A>C , CM000681.1:g.15290890A>C GRCh37
NC_000019.8:g.15151890A>C NCBI36
NG_009819.1:g.25903T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3320T>G MANE Select ENSP00000263388.1:p.Met1107Arg
ENST00000263388.6:c.3320T>G ENSP00000263388.1:p.Met1107Arg
ENST00000601011.1:c.3161T>G ENSP00000473138.1:p.Met1054Arg
NM_000435.2:c.3320T>G NP_000426.2:p.Met1107Arg
XM_005259924.3:c.3164T>G XP_005259981.1:p.Met1055Arg
XM_005259924.4:c.3164T>G XP_005259981.1:p.Met1055Arg
NM_000435.3:c.3320T>G MANE Select NP_000426.2:p.Met1107Arg