Canonical Allele Identifier: CA2583063007

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15180545-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180545A>C , CM000681.2:g.15180545A>C	GRCh38
NC_000019.9:g.15291356A>C , CM000681.1:g.15291356A>C	GRCh37
NC_000019.8:g.15152356A>C	NCBI36
NG_009819.1:g.25437T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3142+136T>G MANE Select	ENSP00000263388.1:n.3142+136T>G
ENST00000263388.6:c.3142+136T>G	ENSP00000263388.1:n.3142+136T>G
ENST00000601011.1:c.2983+136T>G	ENSP00000473138.1:n.2983+136T>G
NM_000435.2:c.3142+136T>G	NP_000426.2:n.3142+136T>G
XM_005259924.3:c.2986+136T>G	XP_005259981.1:n.2986+136T>G
XM_005259924.4:c.2986+136T>G	XP_005259981.1:n.2986+136T>G
NM_000435.3:c.3142+136T>G MANE Select	NP_000426.2:n.3142+136T>G