Canonical Allele Identifier: CA2735795813

Gene: NOTCH3

Linked Data

• dbSNP Id: rs2145421151

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15180581A>G , CM000681.2:g.15180581A>G	GRCh38
NC_000019.9:g.15291392A>G , CM000681.1:g.15291392A>G	GRCh37
NC_000019.8:g.15152392A>G	NCBI36
NG_009819.1:g.25401T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.3142+100T>C MANE Select	ENSP00000263388.1:n.3142+100T>C
ENST00000263388.6:c.3142+100T>C	ENSP00000263388.1:n.3142+100T>C
ENST00000601011.1:c.2983+100T>C	ENSP00000473138.1:n.2983+100T>C
NM_000435.2:c.3142+100T>C	NP_000426.2:n.3142+100T>C
XM_005259924.3:c.2986+100T>C	XP_005259981.1:n.2986+100T>C
XM_005259924.4:c.2986+100T>C	XP_005259981.1:n.2986+100T>C
NM_000435.3:c.3142+100T>C MANE Select	NP_000426.2:n.3142+100T>C