Canonical Allele Identifier: CA9263810

Gene: NOTCH3

Linked Data

• dbSNP Id: rs765430257
• ExAC: 19:15302694 G / A
• gnomAD v2: 19-15302694-G-A
• gnomAD v3: 19-15191883-G-A
• gnomAD v4: 19-15191883-G-A
• MyVariant Identifiers: chr19:g.15302694G>A (hg19) ; chr19:g.15191883G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15191883G>A , CM000681.2:g.15191883G>A	GRCh38
NC_000019.9:g.15302694G>A , CM000681.1:g.15302694G>A	GRCh37
NC_000019.8:g.15163694G>A	NCBI36
NG_009819.1:g.14099C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.680-16C>T MANE Select	ENSP00000263388.1:n.680-16C>T
ENST00000263388.6:c.680-16C>T	ENSP00000263388.1:n.680-16C>T
ENST00000601011.1:c.677-16C>T	ENSP00000473138.1:n.677-16C>T
NM_000435.2:c.680-16C>T	NP_000426.2:n.680-16C>T
XM_005259924.3:c.680-16C>T	XP_005259981.1:n.680-16C>T
XM_005259924.4:c.680-16C>T	XP_005259981.1:n.680-16C>T
NM_000435.3:c.680-16C>T MANE Select	NP_000426.2:n.680-16C>T