Canonical Allele Identifier: CA632128053

Gene: NOTCH3

Linked Data

• dbSNP Id: rs1414418558
• gnomAD v2: 19-15297867-C-G
• gnomAD v4: 19-15187056-C-G
• MyVariant Identifiers: chr19:g.15297867C>G (hg19) ; chr19:g.15187056C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187056C>G , CM000681.2:g.15187056C>G	GRCh38
NC_000019.9:g.15297867C>G , CM000681.1:g.15297867C>G	GRCh37
NC_000019.8:g.15158867C>G	NCBI36
NG_009819.1:g.18926G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1840+49G>C MANE Select	ENSP00000263388.1:n.1840+49G>C
ENST00000263388.6:c.1840+49G>C	ENSP00000263388.1:n.1840+49G>C
ENST00000601011.1:c.1837+49G>C	ENSP00000473138.1:n.1837+49G>C
NM_000435.2:c.1840+49G>C	NP_000426.2:n.1840+49G>C
XM_005259924.3:c.1840+49G>C	XP_005259981.1:n.1840+49G>C
XM_005259924.4:c.1840+49G>C	XP_005259981.1:n.1840+49G>C
NM_000435.3:c.1840+49G>C MANE Select	NP_000426.2:n.1840+49G>C