Canonical Allele Identifier: CA404524637
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs2145432772

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15187128C>G , CM000681.2:g.15187128C>G GRCh38
NC_000019.9:g.15297939C>G , CM000681.1:g.15297939C>G GRCh37
NC_000019.8:g.15158939C>G NCBI36
NG_009819.1:g.18854G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263388.7:c.1817G>C MANE Select ENSP00000263388.1:p.Cys606Ser
ENST00000263388.6:c.1817G>C ENSP00000263388.1:p.Cys606Ser
ENST00000601011.1:c.1814G>C ENSP00000473138.1:p.Cys605Ser
NM_000435.2:c.1817G>C NP_000426.2:p.Cys606Ser
XM_005259924.3:c.1817G>C XP_005259981.1:p.Cys606Ser
XM_005259924.4:c.1817G>C XP_005259981.1:p.Cys606Ser
NM_000435.3:c.1817G>C MANE Select NP_000426.2:p.Cys606Ser