Canonical Allele Identifier: CA375645125

Gene: NOTCH1

Linked Data

• dbSNP Id: rs758692403
• MyVariant Identifiers: chr9:g.139399379G>C (hg19) ; chr9:g.136504927G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504927G>C , CM000671.2:g.136504927G>C	GRCh38
NC_000009.11:g.139399379G>C , CM000671.1:g.139399379G>C	GRCh37
NC_000009.10:g.138519200G>C	NCBI36
NG_007458.1:g.45860C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2571C>G
ENST00000651671.1:c.4764C>G MANE Select	ENSP00000498587.1:p.Ser1588Arg
ENST00000679595.1:c.4764C>G	ENSP00000506241.1:p.Ser1588Arg
ENST00000680133.1:c.4650C>G	ENSP00000505319.1:p.Ser1550Arg
ENST00000680218.1:c.4644C>G	ENSP00000505339.1:p.Ser1548Arg
ENST00000680668.1:c.4650C>G	ENSP00000506336.1:p.Ser1550Arg
ENST00000680778.1:c.2361C>G	ENSP00000506033.1:p.Ser787Arg
ENST00000680924.1:c.*2164C>G	ENSP00000506031.1:n.*2164C>G
ENST00000681135.1:c.*2373C>G	ENSP00000506636.1:n.*2373C>G
ENST00000681298.1:n.1577C>G
ENST00000681454.1:c.*4000C>G	ENSP00000505763.1:n.*4000C>G
ENST00000277541.6:c.4764C>G	ENSP00000277541.6:p.Ser1588Arg
NM_017617.3:c.4764C>G	NP_060087.3:p.Ser1588Arg
XM_011518717.1:c.4065C>G	XP_011517019.1:p.Ser1355Arg
NM_017617.5:c.4764C>G MANE Select	NP_060087.3:p.Ser1588Arg
XM_011518717.2:c.4041C>G	XP_011517019.2:p.Ser1347Arg