Canonical Allele Identifier: CA375631784

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391769G>C (hg19) ; chr9:g.136497317G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497317G>C , CM000671.2:g.136497317G>C	GRCh38
NC_000009.11:g.139391769G>C , CM000671.1:g.139391769G>C	GRCh37
NC_000009.10:g.138511590G>C	NCBI36
NG_007458.1:g.53470C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6422C>G MANE Select	ENSP00000498587.1:p.Ser2141Trp
ENST00000679595.1:c.*1462C>G	ENSP00000506241.1:n.*1462C>G
ENST00000679969.1:n.3018C>G
ENST00000680003.1:n.2754C>G
ENST00000680133.1:c.6308C>G	ENSP00000505319.1:p.Ser2103Trp
ENST00000680218.1:c.6302C>G	ENSP00000505339.1:p.Ser2101Trp
ENST00000680668.1:c.6308C>G	ENSP00000506336.1:p.Ser2103Trp
ENST00000680778.1:c.4019C>G	ENSP00000506033.1:p.Ser1340Trp
ENST00000680924.1:c.*3822C>G	ENSP00000506031.1:n.*3822C>G
ENST00000681135.1:c.*4031C>G	ENSP00000506636.1:n.*4031C>G
ENST00000681298.1:n.4527C>G
ENST00000681454.1:c.*5658C>G	ENSP00000505763.1:n.*5658C>G
ENST00000277541.6:c.6422C>G	ENSP00000277541.6:p.Ser2141Trp
NM_017617.3:c.6422C>G	NP_060087.3:p.Ser2141Trp
XM_011518717.1:c.5723C>G	XP_011517019.1:p.Ser1908Trp
NM_017617.5:c.6422C>G MANE Select	NP_060087.3:p.Ser2141Trp
XM_011518717.2:c.5699C>G	XP_011517019.2:p.Ser1900Trp