Canonical Allele Identifier: CA375634126

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1162986139
• gnomAD v2: 9-139393442-G-C
• gnomAD v4: 9-136498990-G-C
• MyVariant Identifiers: chr9:g.139393442G>C (hg19) ; chr9:g.136498990G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498990G>C , CM000671.2:g.136498990G>C	GRCh38
NC_000009.11:g.139393442G>C , CM000671.1:g.139393442G>C	GRCh37
NC_000009.10:g.138513263G>C	NCBI36
NG_007458.1:g.51797C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6089C>G MANE Select	ENSP00000498587.1:p.Ser2030Cys
ENST00000679595.1:c.*1129C>G	ENSP00000506241.1:n.*1129C>G
ENST00000679969.1:n.2685C>G
ENST00000680003.1:n.2421C>G
ENST00000680133.1:c.5975C>G	ENSP00000505319.1:p.Ser1992Cys
ENST00000680218.1:c.5969C>G	ENSP00000505339.1:p.Ser1990Cys
ENST00000680668.1:c.5975C>G	ENSP00000506336.1:p.Ser1992Cys
ENST00000680778.1:c.3686C>G	ENSP00000506033.1:p.Ser1229Cys
ENST00000680924.1:c.*3489C>G	ENSP00000506031.1:n.*3489C>G
ENST00000681135.1:c.*3698C>G	ENSP00000506636.1:n.*3698C>G
ENST00000681298.1:n.4194C>G
ENST00000681454.1:c.*5325C>G	ENSP00000505763.1:n.*5325C>G
ENST00000277541.6:c.6089C>G	ENSP00000277541.6:p.Ser2030Cys
NM_017617.3:c.6089C>G	NP_060087.3:p.Ser2030Cys
XM_011518717.1:c.5390C>G	XP_011517019.1:p.Ser1797Cys
NM_017617.5:c.6089C>G MANE Select	NP_060087.3:p.Ser2030Cys
XM_011518717.2:c.5366C>G	XP_011517019.2:p.Ser1789Cys