Canonical Allele Identifier: CA375634363

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322684
• gnomAD v4: 9-136499147-T-C
• MyVariant Identifiers: chr9:g.139393599T>C (hg19) ; chr9:g.136499147T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499147T>C , CM000671.2:g.136499147T>C	GRCh38
NC_000009.11:g.139393599T>C , CM000671.1:g.139393599T>C	GRCh37
NC_000009.10:g.138513420T>C	NCBI36
NG_007458.1:g.51640A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6047A>G MANE Select	ENSP00000498587.1:p.Asn2016Ser
ENST00000679595.1:c.*1087A>G	ENSP00000506241.1:n.*1087A>G
ENST00000679969.1:n.2528A>G
ENST00000680003.1:n.2379A>G
ENST00000680133.1:c.5933A>G	ENSP00000505319.1:p.Asn1978Ser
ENST00000680218.1:c.5927A>G	ENSP00000505339.1:p.Asn1976Ser
ENST00000680668.1:c.5933A>G	ENSP00000506336.1:p.Asn1978Ser
ENST00000680778.1:c.3644A>G	ENSP00000506033.1:p.Asn1215Ser
ENST00000680924.1:c.*3447A>G	ENSP00000506031.1:n.*3447A>G
ENST00000681135.1:c.*3656A>G	ENSP00000506636.1:n.*3656A>G
ENST00000681298.1:n.4152A>G
ENST00000681454.1:c.*5283A>G	ENSP00000505763.1:n.*5283A>G
ENST00000277541.6:c.6047A>G	ENSP00000277541.6:p.Asn2016Ser
NM_017617.3:c.6047A>G	NP_060087.3:p.Asn2016Ser
XM_011518717.1:c.5348A>G	XP_011517019.1:p.Asn1783Ser
NM_017617.5:c.6047A>G MANE Select	NP_060087.3:p.Asn2016Ser
XM_011518717.2:c.5324A>G	XP_011517019.2:p.Asn1775Ser