Canonical Allele Identifier: CA375631428

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1254298379
• gnomAD v2: 9-139391671-T-C
• gnomAD v4: 9-136497219-T-C
• MyVariant Identifiers: chr9:g.139391671T>C (hg19) ; chr9:g.136497219T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497219T>C , CM000671.2:g.136497219T>C	GRCh38
NC_000009.11:g.139391671T>C , CM000671.1:g.139391671T>C	GRCh37
NC_000009.10:g.138511492T>C	NCBI36
NG_007458.1:g.53568A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6520A>G MANE Select	ENSP00000498587.1:p.Lys2174Glu
ENST00000679595.1:c.*1560A>G	ENSP00000506241.1:n.*1560A>G
ENST00000679969.1:n.3116A>G
ENST00000680003.1:n.2852A>G
ENST00000680133.1:c.6406A>G	ENSP00000505319.1:p.Lys2136Glu
ENST00000680218.1:c.6400A>G	ENSP00000505339.1:p.Lys2134Glu
ENST00000680668.1:c.6406A>G	ENSP00000506336.1:p.Lys2136Glu
ENST00000680778.1:c.4117A>G	ENSP00000506033.1:p.Lys1373Glu
ENST00000680924.1:c.*3920A>G	ENSP00000506031.1:n.*3920A>G
ENST00000681135.1:c.*4129A>G	ENSP00000506636.1:n.*4129A>G
ENST00000681298.1:n.4625A>G
ENST00000681454.1:c.*5756A>G	ENSP00000505763.1:n.*5756A>G
ENST00000277541.6:c.6520A>G	ENSP00000277541.6:p.Lys2174Glu
NM_017617.3:c.6520A>G	NP_060087.3:p.Lys2174Glu
XM_011518717.1:c.5821A>G	XP_011517019.1:p.Lys1941Glu
NM_017617.5:c.6520A>G MANE Select	NP_060087.3:p.Lys2174Glu
XM_011518717.2:c.5797A>G	XP_011517019.2:p.Lys1933Glu