Canonical Allele Identifier: CA2324744193

Gene: NOTCH3

Linked Data

• dbSNP Id: rs1434049614
• gnomAD v4: 19-15180020-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180020G>C , CM000681.2:g.15180020G>C	GRCh38
NC_000019.9:g.15290831G>C , CM000681.1:g.15290831G>C	GRCh37
NC_000019.8:g.15151831G>C	NCBI36
NG_009819.1:g.25962C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3327+52C>G MANE Select	ENSP00000263388.1:n.3327+52C>G
ENST00000263388.6:c.3327+52C>G	ENSP00000263388.1:n.3327+52C>G
ENST00000601011.1:c.3168+52C>G	ENSP00000473138.1:n.3168+52C>G
NM_000435.2:c.3327+52C>G	NP_000426.2:n.3327+52C>G
XM_005259924.3:c.3171+52C>G	XP_005259981.1:n.3171+52C>G
XM_005259924.4:c.3171+52C>G	XP_005259981.1:n.3171+52C>G
NM_000435.3:c.3327+52C>G MANE Select	NP_000426.2:n.3327+52C>G