Canonical Allele Identifier: CA375555518

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139405699G>C (hg19) ; chr9:g.136511247G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136511247G>C , CM000671.2:g.136511247G>C	GRCh38
NC_000009.11:g.139405699G>C , CM000671.1:g.139405699G>C	GRCh37
NC_000009.10:g.138525520G>C	NCBI36
NG_007458.1:g.39540C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000645828.1:n.299C>G
ENST00000646957.2:n.115C>G
ENST00000651671.1:c.2492C>G MANE Select	ENSP00000498587.1:p.Ala831Gly
ENST00000679595.1:c.2492C>G	ENSP00000506241.1:p.Ala831Gly
ENST00000680133.1:c.2378C>G	ENSP00000505319.1:p.Ala793Gly
ENST00000680218.1:c.2492C>G	ENSP00000505339.1:p.Ala831Gly
ENST00000680668.1:c.2378C>G	ENSP00000506336.1:p.Ala793Gly
ENST00000680778.1:c.89C>G	ENSP00000506033.1:p.Ala30Gly
ENST00000680924.1:c.2492C>G	ENSP00000506031.1:p.Ala831Gly
ENST00000681135.1:c.*101C>G	ENSP00000506636.1:n.*101C>G
ENST00000681454.1:c.*1728C>G	ENSP00000505763.1:n.*1728C>G
ENST00000277541.6:c.2492C>G	ENSP00000277541.6:p.Ala831Gly
NM_017617.3:c.2492C>G	NP_060087.3:p.Ala831Gly
XM_011518717.1:c.1793C>G	XP_011517019.1:p.Ala598Gly
NM_017617.5:c.2492C>G MANE Select	NP_060087.3:p.Ala831Gly
XM_011518717.2:c.1769C>G	XP_011517019.2:p.Ala590Gly