Canonical Allele Identifier: CA404533577

Gene: NOTCH3

Linked Data

• dbSNP Id: rs2145441653
• MyVariant Identifiers: chr19:g.15302894G>C (hg19) ; chr19:g.15192083G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15192083G>C , CM000681.2:g.15192083G>C	GRCh38
NC_000019.9:g.15302894G>C , CM000681.1:g.15302894G>C	GRCh37
NC_000019.8:g.15163894G>C	NCBI36
NG_009819.1:g.13899C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263388.7:c.556C>G MANE Select	ENSP00000263388.1:p.Pro186Ala
ENST00000263388.6:c.556C>G	ENSP00000263388.1:p.Pro186Ala
ENST00000601011.1:c.553C>G	ENSP00000473138.1:p.Pro185Ala
NM_000435.2:c.556C>G	NP_000426.2:p.Pro186Ala
XM_005259924.3:c.556C>G	XP_005259981.1:p.Pro186Ala
XM_005259924.4:c.556C>G	XP_005259981.1:p.Pro186Ala
NM_000435.3:c.556C>G MANE Select	NP_000426.2:p.Pro186Ala