Canonical Allele Identifier: CA375555491

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133354891
• MyVariant Identifiers: chr9:g.139405693C>G (hg19) ; chr9:g.136511241C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136511241C>G , CM000671.2:g.136511241C>G	GRCh38
NC_000009.11:g.139405693C>G , CM000671.1:g.139405693C>G	GRCh37
NC_000009.10:g.138525514C>G	NCBI36
NG_007458.1:g.39546G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000645828.1:n.305G>C
ENST00000646957.2:n.121G>C
ENST00000651671.1:c.2498G>C MANE Select	ENSP00000498587.1:p.Cys833Ser
ENST00000679595.1:c.2498G>C	ENSP00000506241.1:p.Cys833Ser
ENST00000680133.1:c.2384G>C	ENSP00000505319.1:p.Cys795Ser
ENST00000680218.1:c.2498G>C	ENSP00000505339.1:p.Cys833Ser
ENST00000680668.1:c.2384G>C	ENSP00000506336.1:p.Cys795Ser
ENST00000680778.1:c.95G>C	ENSP00000506033.1:p.Cys32Ser
ENST00000680924.1:c.2498G>C	ENSP00000506031.1:p.Cys833Ser
ENST00000681135.1:c.*107G>C	ENSP00000506636.1:n.*107G>C
ENST00000681454.1:c.*1734G>C	ENSP00000505763.1:n.*1734G>C
ENST00000277541.6:c.2498G>C	ENSP00000277541.6:p.Cys833Ser
NM_017617.3:c.2498G>C	NP_060087.3:p.Cys833Ser
XM_011518717.1:c.1799G>C	XP_011517019.1:p.Cys600Ser
NM_017617.5:c.2498G>C MANE Select	NP_060087.3:p.Cys833Ser
XM_011518717.2:c.1775G>C	XP_011517019.2:p.Cys592Ser