Canonical Allele Identifier: CA632128053
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs1414418558

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187056C>G , CM000681.2:g.15187056C>G GRCh38
NC_000019.9:g.15297867C>G , CM000681.1:g.15297867C>G GRCh37
NC_000019.8:g.15158867C>G NCBI36
NG_009819.1:g.18926G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.1840+49G>C MANE Select ENSP00000263388.1:n.1840+49G>C
ENST00000263388.6:c.1840+49G>C ENSP00000263388.1:n.1840+49G>C
ENST00000601011.1:c.1837+49G>C ENSP00000473138.1:n.1837+49G>C
NM_000435.2:c.1840+49G>C NP_000426.2:n.1840+49G>C
XM_005259924.3:c.1840+49G>C XP_005259981.1:n.1840+49G>C
XM_005259924.4:c.1840+49G>C XP_005259981.1:n.1840+49G>C
NM_000435.3:c.1840+49G>C MANE Select NP_000426.2:n.1840+49G>C