Canonical Allele Identifier: CA404511212

Gene: NOTCH3

Linked Data

• dbSNP Id: rs200504060
• MyVariant Identifiers: chr19:g.15290031G>C (hg19) ; chr19:g.15179220G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15179220G>C , CM000681.2:g.15179220G>C	GRCh38
NC_000019.9:g.15290031G>C , CM000681.1:g.15290031G>C	GRCh37
NC_000019.8:g.15151031G>C	NCBI36
NG_009819.1:g.26762C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263388.7:c.3523C>G MANE Select	ENSP00000263388.1:p.Arg1175Gly
ENST00000263388.6:c.3523C>G	ENSP00000263388.1:p.Arg1175Gly
ENST00000595045.1:n.359C>G
ENST00000600841.1:n.1C>G
ENST00000601011.1:c.3364C>G	ENSP00000473138.1:p.Arg1122Gly
NM_000435.2:c.3523C>G	NP_000426.2:p.Arg1175Gly
XM_005259924.3:c.3367C>G	XP_005259981.1:p.Arg1123Gly
XM_005259924.4:c.3367C>G	XP_005259981.1:p.Arg1123Gly
NM_000435.3:c.3523C>G MANE Select	NP_000426.2:p.Arg1175Gly