Canonical Allele Identifier: CA404532250

Gene: NOTCH3

Linked Data

• dbSNP Id: rs2145440579
• MyVariant Identifiers: chr19:g.15302576T>A (hg19) ; chr19:g.15191765T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15191765T>A , CM000681.2:g.15191765T>A	GRCh38
NC_000019.9:g.15302576T>A , CM000681.1:g.15302576T>A	GRCh37
NC_000019.8:g.15163576T>A	NCBI36
NG_009819.1:g.14217A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.782A>T MANE Select	ENSP00000263388.1:p.Gln261Leu
ENST00000263388.6:c.782A>T	ENSP00000263388.1:p.Gln261Leu
ENST00000601011.1:c.779A>T	ENSP00000473138.1:p.Gln260Leu
NM_000435.2:c.782A>T	NP_000426.2:p.Gln261Leu
XM_005259924.3:c.782A>T	XP_005259981.1:p.Gln261Leu
XM_005259924.4:c.782A>T	XP_005259981.1:p.Gln261Leu
NM_000435.3:c.782A>T MANE Select	NP_000426.2:p.Gln261Leu