Canonical Allele Identifier: CA375645786

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399497C>G (hg19) ; chr9:g.136505045C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505045C>G , CM000671.2:g.136505045C>G	GRCh38
NC_000009.11:g.139399497C>G , CM000671.1:g.139399497C>G	GRCh37
NC_000009.10:g.138519318C>G	NCBI36
NG_007458.1:g.45742G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2453G>C
ENST00000651671.1:c.4646G>C MANE Select	ENSP00000498587.1:p.Cys1549Ser
ENST00000679595.1:c.4646G>C	ENSP00000506241.1:p.Cys1549Ser
ENST00000680133.1:c.4532G>C	ENSP00000505319.1:p.Cys1511Ser
ENST00000680218.1:c.4526G>C	ENSP00000505339.1:p.Cys1509Ser
ENST00000680668.1:c.4532G>C	ENSP00000506336.1:p.Cys1511Ser
ENST00000680778.1:c.2243G>C	ENSP00000506033.1:p.Cys748Ser
ENST00000680924.1:c.*2046G>C	ENSP00000506031.1:n.*2046G>C
ENST00000681135.1:c.*2255G>C	ENSP00000506636.1:n.*2255G>C
ENST00000681298.1:n.1459G>C
ENST00000681454.1:c.*3882G>C	ENSP00000505763.1:n.*3882G>C
ENST00000277541.6:c.4646G>C	ENSP00000277541.6:p.Cys1549Ser
NM_017617.3:c.4646G>C	NP_060087.3:p.Cys1549Ser
XM_011518717.1:c.3947G>C	XP_011517019.1:p.Cys1316Ser
NM_017617.5:c.4646G>C MANE Select	NP_060087.3:p.Cys1549Ser
XM_011518717.2:c.3923G>C	XP_011517019.2:p.Cys1308Ser