Canonical Allele Identifier: CA2583064571

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15187057-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187057T>C , CM000681.2:g.15187057T>C	GRCh38
NC_000019.9:g.15297868T>C , CM000681.1:g.15297868T>C	GRCh37
NC_000019.8:g.15158868T>C	NCBI36
NG_009819.1:g.18925A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1840+48A>G MANE Select	ENSP00000263388.1:n.1840+48A>G
ENST00000263388.6:c.1840+48A>G	ENSP00000263388.1:n.1840+48A>G
ENST00000601011.1:c.1837+48A>G	ENSP00000473138.1:n.1837+48A>G
NM_000435.2:c.1840+48A>G	NP_000426.2:n.1840+48A>G
XM_005259924.3:c.1840+48A>G	XP_005259981.1:n.1840+48A>G
XM_005259924.4:c.1840+48A>G	XP_005259981.1:n.1840+48A>G
NM_000435.3:c.1840+48A>G MANE Select	NP_000426.2:n.1840+48A>G