Canonical Allele Identifier: CA375644744

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336470
• gnomAD v4: 9-136504851-G-C
• MyVariant Identifiers: chr9:g.139399303G>C (hg19) ; chr9:g.136504851G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504851G>C , CM000671.2:g.136504851G>C	GRCh38
NC_000009.11:g.139399303G>C , CM000671.1:g.139399303G>C	GRCh37
NC_000009.10:g.138519124G>C	NCBI36
NG_007458.1:g.45936C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2647C>G
ENST00000651671.1:c.4840C>G MANE Select	ENSP00000498587.1:p.Gln1614Glu
ENST00000679595.1:c.4840C>G	ENSP00000506241.1:p.Gln1614Glu
ENST00000680133.1:c.4726C>G	ENSP00000505319.1:p.Gln1576Glu
ENST00000680218.1:c.4720C>G	ENSP00000505339.1:p.Gln1574Glu
ENST00000680668.1:c.4726C>G	ENSP00000506336.1:p.Gln1576Glu
ENST00000680778.1:c.2437C>G	ENSP00000506033.1:p.Gln813Glu
ENST00000680924.1:c.*2240C>G	ENSP00000506031.1:n.*2240C>G
ENST00000681135.1:c.*2449C>G	ENSP00000506636.1:n.*2449C>G
ENST00000681298.1:n.1653C>G
ENST00000681454.1:c.*4076C>G	ENSP00000505763.1:n.*4076C>G
ENST00000277541.6:c.4840C>G	ENSP00000277541.6:p.Gln1614Glu
NM_017617.3:c.4840C>G	NP_060087.3:p.Gln1614Glu
XM_011518717.1:c.4141C>G	XP_011517019.1:p.Gln1381Glu
NM_017617.5:c.4840C>G MANE Select	NP_060087.3:p.Gln1614Glu
XM_011518717.2:c.4117C>G	XP_011517019.2:p.Gln1373Glu