Canonical Allele Identifier: CA993904453

Gene: NOTCH3

Linked Data

• dbSNP Id: rs2046892747
• gnomAD v3: 19-15187467-A-C
• gnomAD v4: 19-15187467-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15187467A>C , CM000681.2:g.15187467A>C	GRCh38
NC_000019.9:g.15298278A>C , CM000681.1:g.15298278A>C	GRCh37
NC_000019.8:g.15159278A>C	NCBI36
NG_009819.1:g.18515T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.1607-129T>G MANE Select	ENSP00000263388.1:n.1607-129T>G
ENST00000263388.6:c.1607-129T>G	ENSP00000263388.1:n.1607-129T>G
ENST00000601011.1:c.1604-129T>G	ENSP00000473138.1:n.1604-129T>G
NM_000435.2:c.1607-129T>G	NP_000426.2:n.1607-129T>G
XM_005259924.3:c.1607-129T>G	XP_005259981.1:n.1607-129T>G
XM_005259924.4:c.1607-129T>G	XP_005259981.1:n.1607-129T>G
NM_000435.3:c.1607-129T>G MANE Select	NP_000426.2:n.1607-129T>G