Canonical Allele Identifier: CA375631371

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1197184303
• gnomAD v4: 9-136497207-C-G
• MyVariant Identifiers: chr9:g.139391659C>G (hg19) ; chr9:g.136497207C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497207C>G , CM000671.2:g.136497207C>G	GRCh38
NC_000009.11:g.139391659C>G , CM000671.1:g.139391659C>G	GRCh37
NC_000009.10:g.138511480C>G	NCBI36
NG_007458.1:g.53580G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6532G>C MANE Select	ENSP00000498587.1:p.Ala2178Pro
ENST00000679595.1:c.*1572G>C	ENSP00000506241.1:n.*1572G>C
ENST00000679969.1:n.3128G>C
ENST00000680003.1:n.2864G>C
ENST00000680133.1:c.6418G>C	ENSP00000505319.1:p.Ala2140Pro
ENST00000680218.1:c.6412G>C	ENSP00000505339.1:p.Ala2138Pro
ENST00000680668.1:c.6418G>C	ENSP00000506336.1:p.Ala2140Pro
ENST00000680778.1:c.4129G>C	ENSP00000506033.1:p.Ala1377Pro
ENST00000680924.1:c.*3932G>C	ENSP00000506031.1:n.*3932G>C
ENST00000681135.1:c.*4141G>C	ENSP00000506636.1:n.*4141G>C
ENST00000681298.1:n.4637G>C
ENST00000681454.1:c.*5768G>C	ENSP00000505763.1:n.*5768G>C
ENST00000277541.6:c.6532G>C	ENSP00000277541.6:p.Ala2178Pro
NM_017617.3:c.6532G>C	NP_060087.3:p.Ala2178Pro
XM_011518717.1:c.5833G>C	XP_011517019.1:p.Ala1945Pro
NM_017617.5:c.6532G>C MANE Select	NP_060087.3:p.Ala2178Pro
XM_011518717.2:c.5809G>C	XP_011517019.2:p.Ala1937Pro