Canonical Allele Identifier: CA375563002

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 2421012
• ClinVar RCV Id: RCV003112672
• MyVariant Identifiers: chr9:g.139412260T>C (hg19) ; chr9:g.136517808T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136517808T>C , CM000671.2:g.136517808T>C	GRCh38
NC_000009.11:g.139412260T>C , CM000671.1:g.139412260T>C	GRCh37
NC_000009.10:g.138532081T>C	NCBI36
NG_007458.1:g.32979A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.1385A>G MANE Select	ENSP00000498587.1:p.Gln462Arg
ENST00000679595.1:c.1385A>G	ENSP00000506241.1:p.Gln462Arg
ENST00000680133.1:c.1385A>G	ENSP00000505319.1:p.Gln462Arg
ENST00000680218.1:c.1385A>G	ENSP00000505339.1:p.Gln462Arg
ENST00000680668.1:c.1385A>G	ENSP00000506336.1:p.Gln462Arg
ENST00000680924.1:c.1385A>G	ENSP00000506031.1:p.Gln462Arg
ENST00000681135.1:c.1385A>G	ENSP00000506636.1:p.Gln462Arg
ENST00000681454.1:c.*621A>G	ENSP00000505763.1:n.*621A>G
ENST00000277541.6:c.1385A>G	ENSP00000277541.6:p.Gln462Arg
NM_017617.3:c.1385A>G	NP_060087.3:p.Gln462Arg
XM_011518717.1:c.686A>G	XP_011517019.1:p.Gln229Arg
NM_017617.5:c.1385A>G MANE Select	NP_060087.3:p.Gln462Arg
XM_011518717.2:c.662A>G	XP_011517019.2:p.Gln221Arg