Canonical Allele Identifier: CA632128055

Gene: NOTCH3

Linked Data

• dbSNP Id: rs752856819
• gnomAD v2: 19-15297876-C-A
• gnomAD v4: 19-15187065-C-A
• MyVariant Identifiers: chr19:g.15297876C>A (hg19) ; chr19:g.15187065C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187065C>A , CM000681.2:g.15187065C>A	GRCh38
NC_000019.9:g.15297876C>A , CM000681.1:g.15297876C>A	GRCh37
NC_000019.8:g.15158876C>A	NCBI36
NG_009819.1:g.18917G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263388.7:c.1840+40G>T MANE Select	ENSP00000263388.1:n.1840+40G>T
ENST00000263388.6:c.1840+40G>T	ENSP00000263388.1:n.1840+40G>T
ENST00000601011.1:c.1837+40G>T	ENSP00000473138.1:n.1837+40G>T
NM_000435.2:c.1840+40G>T	NP_000426.2:n.1840+40G>T
XM_005259924.3:c.1840+40G>T	XP_005259981.1:n.1840+40G>T
XM_005259924.4:c.1840+40G>T	XP_005259981.1:n.1840+40G>T
NM_000435.3:c.1840+40G>T MANE Select	NP_000426.2:n.1840+40G>T