Canonical Allele Identifier: CA467832611

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391798G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497346G>C , CM000671.2:g.136497346G>C	GRCh38
NC_000009.11:g.139391798G>C , CM000671.1:g.139391798G>C	GRCh37
NC_000009.10:g.138511619G>C	NCBI36
NG_007458.1:g.53441C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6393C>G MANE Select	ENSP00000498587.1:p.Gly2131=
ENST00000679595.1:c.*1433C>G	ENSP00000506241.1:n.*1433C>G
ENST00000679969.1:n.2989C>G
ENST00000680003.1:n.2725C>G
ENST00000680133.1:c.6279C>G	ENSP00000505319.1:p.Gly2093=
ENST00000680218.1:c.6273C>G	ENSP00000505339.1:p.Gly2091=
ENST00000680668.1:c.6279C>G	ENSP00000506336.1:p.Gly2093=
ENST00000680778.1:c.3990C>G	ENSP00000506033.1:p.Gly1330=
ENST00000680924.1:c.*3793C>G	ENSP00000506031.1:n.*3793C>G
ENST00000681135.1:c.*4002C>G	ENSP00000506636.1:n.*4002C>G
ENST00000681298.1:n.4498C>G
ENST00000681454.1:c.*5629C>G	ENSP00000505763.1:n.*5629C>G
ENST00000277541.6:c.6393C>G	ENSP00000277541.6:p.Gly2131=
NM_017617.3:c.6393C>G	NP_060087.3:p.Gly2131=
XM_011518717.1:c.5694C>G	XP_011517019.1:p.Gly1898=
NM_017617.5:c.6393C>G MANE Select	NP_060087.3:p.Gly2131=
XM_011518717.2:c.5670C>G	XP_011517019.2:p.Gly1890=