Canonical Allele Identifier: CA2583064759

Gene: NOTCH3

Linked Data

• gnomAD v4: 19-15187472-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187472C>A , CM000681.2:g.15187472C>A	GRCh38
NC_000019.9:g.15298283C>A , CM000681.1:g.15298283C>A	GRCh37
NC_000019.8:g.15159283C>A	NCBI36
NG_009819.1:g.18510G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-134G>T MANE Select	ENSP00000263388.1:n.1607-134G>T
ENST00000263388.6:c.1607-134G>T	ENSP00000263388.1:n.1607-134G>T
ENST00000601011.1:c.1604-134G>T	ENSP00000473138.1:n.1604-134G>T
NM_000435.2:c.1607-134G>T	NP_000426.2:n.1607-134G>T
XM_005259924.3:c.1607-134G>T	XP_005259981.1:n.1607-134G>T
XM_005259924.4:c.1607-134G>T	XP_005259981.1:n.1607-134G>T
NM_000435.3:c.1607-134G>T MANE Select	NP_000426.2:n.1607-134G>T