Canonical Allele Identifier: CA375644480

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1205847026
• gnomAD v2: 9-139399249-T-C
• gnomAD v3: 9-136504797-T-C
• gnomAD v4: 9-136504797-T-C
• MyVariant Identifiers: chr9:g.139399249T>C (hg19) ; chr9:g.136504797T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504797T>C , CM000671.2:g.136504797T>C	GRCh38
NC_000009.11:g.139399249T>C , CM000671.1:g.139399249T>C	GRCh37
NC_000009.10:g.138519070T>C	NCBI36
NG_007458.1:g.45990A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2701A>G
ENST00000651671.1:c.4894A>G MANE Select	ENSP00000498587.1:p.Lys1632Glu
ENST00000679595.1:c.4894A>G	ENSP00000506241.1:p.Lys1632Glu
ENST00000680133.1:c.4780A>G	ENSP00000505319.1:p.Lys1594Glu
ENST00000680218.1:c.4774A>G	ENSP00000505339.1:p.Lys1592Glu
ENST00000680668.1:c.4780A>G	ENSP00000506336.1:p.Lys1594Glu
ENST00000680778.1:c.2491A>G	ENSP00000506033.1:p.Lys831Glu
ENST00000680924.1:c.*2294A>G	ENSP00000506031.1:n.*2294A>G
ENST00000681135.1:c.*2503A>G	ENSP00000506636.1:n.*2503A>G
ENST00000681298.1:n.1707A>G
ENST00000681454.1:c.*4130A>G	ENSP00000505763.1:n.*4130A>G
ENST00000277541.6:c.4894A>G	ENSP00000277541.6:p.Lys1632Glu
ENST00000494783.1:n.49A>G
NM_017617.3:c.4894A>G	NP_060087.3:p.Lys1632Glu
XM_011518717.1:c.4195A>G	XP_011517019.1:p.Lys1399Glu
NM_017617.5:c.4894A>G MANE Select	NP_060087.3:p.Lys1632Glu
XM_011518717.2:c.4171A>G	XP_011517019.2:p.Lys1391Glu