Canonical Allele Identifier: CA375631298

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1354290
• ClinVar RCV Id: RCV001874077
• dbSNP Id: rs2133318027
• gnomAD v4: 9-136497188-T-C
• MyVariant Identifiers: chr9:g.139391640T>C (hg19) ; chr9:g.136497188T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497188T>C , CM000671.2:g.136497188T>C	GRCh38
NC_000009.11:g.139391640T>C , CM000671.1:g.139391640T>C	GRCh37
NC_000009.10:g.138511461T>C	NCBI36
NG_007458.1:g.53599A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6551A>G MANE Select	ENSP00000498587.1:p.Gln2184Arg
ENST00000679595.1:c.*1591A>G	ENSP00000506241.1:n.*1591A>G
ENST00000679969.1:n.3147A>G
ENST00000680003.1:n.2883A>G
ENST00000680133.1:c.6437A>G	ENSP00000505319.1:p.Gln2146Arg
ENST00000680218.1:c.6431A>G	ENSP00000505339.1:p.Gln2144Arg
ENST00000680668.1:c.6437A>G	ENSP00000506336.1:p.Gln2146Arg
ENST00000680778.1:c.4148A>G	ENSP00000506033.1:p.Gln1383Arg
ENST00000680924.1:c.*3951A>G	ENSP00000506031.1:n.*3951A>G
ENST00000681135.1:c.*4160A>G	ENSP00000506636.1:n.*4160A>G
ENST00000681298.1:n.4656A>G
ENST00000681454.1:c.*5787A>G	ENSP00000505763.1:n.*5787A>G
ENST00000277541.6:c.6551A>G	ENSP00000277541.6:p.Gln2184Arg
NM_017617.3:c.6551A>G	NP_060087.3:p.Gln2184Arg
XM_011518717.1:c.5852A>G	XP_011517019.1:p.Gln1951Arg
NM_017617.5:c.6551A>G MANE Select	NP_060087.3:p.Gln2184Arg
XM_011518717.2:c.5828A>G	XP_011517019.2:p.Gln1943Arg