Canonical Allele Identifier: CA375644636

Gene: NOTCH1

Linked Data

• dbSNP Id: rs867637156
• gnomAD v4: 9-136504830-C-G
• MyVariant Identifiers: chr9:g.139399282C>G (hg19) ; chr9:g.136504830C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504830C>G , CM000671.2:g.136504830C>G	GRCh38
NC_000009.11:g.139399282C>G , CM000671.1:g.139399282C>G	GRCh37
NC_000009.10:g.138519103C>G	NCBI36
NG_007458.1:g.45957G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2668G>C
ENST00000651671.1:c.4861G>C MANE Select	ENSP00000498587.1:p.Gly1621Arg
ENST00000679595.1:c.4861G>C	ENSP00000506241.1:p.Gly1621Arg
ENST00000680133.1:c.4747G>C	ENSP00000505319.1:p.Gly1583Arg
ENST00000680218.1:c.4741G>C	ENSP00000505339.1:p.Gly1581Arg
ENST00000680668.1:c.4747G>C	ENSP00000506336.1:p.Gly1583Arg
ENST00000680778.1:c.2458G>C	ENSP00000506033.1:p.Gly820Arg
ENST00000680924.1:c.*2261G>C	ENSP00000506031.1:n.*2261G>C
ENST00000681135.1:c.*2470G>C	ENSP00000506636.1:n.*2470G>C
ENST00000681298.1:n.1674G>C
ENST00000681454.1:c.*4097G>C	ENSP00000505763.1:n.*4097G>C
ENST00000277541.6:c.4861G>C	ENSP00000277541.6:p.Gly1621Arg
ENST00000494783.1:n.16G>C
NM_017617.3:c.4861G>C	NP_060087.3:p.Gly1621Arg
XM_011518717.1:c.4162G>C	XP_011517019.1:p.Gly1388Arg
NM_017617.5:c.4861G>C MANE Select	NP_060087.3:p.Gly1621Arg
XM_011518717.2:c.4138G>C	XP_011517019.2:p.Gly1380Arg