Canonical Allele Identifier: CA9263173

Gene: NOTCH3

Linked Data

• dbSNP Id: rs137943075
• ExAC: 19:15291096 G / C
• gnomAD v2: 19-15291096-G-C
• gnomAD v3: 19-15180285-G-C
• gnomAD v4: 19-15180285-G-C
• MyVariant Identifiers: chr19:g.15291096G>C (hg19) ; chr19:g.15180285G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180285G>C , CM000681.2:g.15180285G>C	GRCh38
NC_000019.9:g.15291096G>C , CM000681.1:g.15291096G>C	GRCh37
NC_000019.8:g.15152096G>C	NCBI36
NG_009819.1:g.25697C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3143-29C>G MANE Select	ENSP00000263388.1:n.3143-29C>G
ENST00000263388.6:c.3143-29C>G	ENSP00000263388.1:n.3143-29C>G
ENST00000601011.1:c.2984-29C>G	ENSP00000473138.1:n.2984-29C>G
NM_000435.2:c.3143-29C>G	NP_000426.2:n.3143-29C>G
XM_005259924.3:c.2987-29C>G	XP_005259981.1:n.2987-29C>G
XM_005259924.4:c.2987-29C>G	XP_005259981.1:n.2987-29C>G
NM_000435.3:c.3143-29C>G MANE Select	NP_000426.2:n.3143-29C>G