Canonical Allele Identifier: CA375631674

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1842932370
• gnomAD v4: 9-136497288-G-C
• MyVariant Identifiers: chr9:g.139391740G>C (hg19) ; chr9:g.136497288G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497288G>C , CM000671.2:g.136497288G>C	GRCh38
NC_000009.11:g.139391740G>C , CM000671.1:g.139391740G>C	GRCh37
NC_000009.10:g.138511561G>C	NCBI36
NG_007458.1:g.53499C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6451C>G MANE Select	ENSP00000498587.1:p.Pro2151Ala
ENST00000679595.1:c.*1491C>G	ENSP00000506241.1:n.*1491C>G
ENST00000679969.1:n.3047C>G
ENST00000680003.1:n.2783C>G
ENST00000680133.1:c.6337C>G	ENSP00000505319.1:p.Pro2113Ala
ENST00000680218.1:c.6331C>G	ENSP00000505339.1:p.Pro2111Ala
ENST00000680668.1:c.6337C>G	ENSP00000506336.1:p.Pro2113Ala
ENST00000680778.1:c.4048C>G	ENSP00000506033.1:p.Pro1350Ala
ENST00000680924.1:c.*3851C>G	ENSP00000506031.1:n.*3851C>G
ENST00000681135.1:c.*4060C>G	ENSP00000506636.1:n.*4060C>G
ENST00000681298.1:n.4556C>G
ENST00000681454.1:c.*5687C>G	ENSP00000505763.1:n.*5687C>G
ENST00000277541.6:c.6451C>G	ENSP00000277541.6:p.Pro2151Ala
NM_017617.3:c.6451C>G	NP_060087.3:p.Pro2151Ala
XM_011518717.1:c.5752C>G	XP_011517019.1:p.Pro1918Ala
NM_017617.5:c.6451C>G MANE Select	NP_060087.3:p.Pro2151Ala
XM_011518717.2:c.5728C>G	XP_011517019.2:p.Pro1910Ala