Canonical Allele Identifier: CA375634356

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322676
• gnomAD v4: 9-136499146-G-C
• MyVariant Identifiers: chr9:g.139393598G>C (hg19) ; chr9:g.136499146G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499146G>C , CM000671.2:g.136499146G>C	GRCh38
NC_000009.11:g.139393598G>C , CM000671.1:g.139393598G>C	GRCh37
NC_000009.10:g.138513419G>C	NCBI36
NG_007458.1:g.51641C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6048C>G MANE Select	ENSP00000498587.1:p.Asn2016Lys
ENST00000679595.1:c.*1088C>G	ENSP00000506241.1:n.*1088C>G
ENST00000679969.1:n.2529C>G
ENST00000680003.1:n.2380C>G
ENST00000680133.1:c.5934C>G	ENSP00000505319.1:p.Asn1978Lys
ENST00000680218.1:c.5928C>G	ENSP00000505339.1:p.Asn1976Lys
ENST00000680668.1:c.5934C>G	ENSP00000506336.1:p.Asn1978Lys
ENST00000680778.1:c.3645C>G	ENSP00000506033.1:p.Asn1215Lys
ENST00000680924.1:c.*3448C>G	ENSP00000506031.1:n.*3448C>G
ENST00000681135.1:c.*3657C>G	ENSP00000506636.1:n.*3657C>G
ENST00000681298.1:n.4153C>G
ENST00000681454.1:c.*5284C>G	ENSP00000505763.1:n.*5284C>G
ENST00000277541.6:c.6048C>G	ENSP00000277541.6:p.Asn2016Lys
NM_017617.3:c.6048C>G	NP_060087.3:p.Asn2016Lys
XM_011518717.1:c.5349C>G	XP_011517019.1:p.Asn1783Lys
NM_017617.5:c.6048C>G MANE Select	NP_060087.3:p.Asn2016Lys
XM_011518717.2:c.5325C>G	XP_011517019.2:p.Asn1775Lys