Canonical Allele Identifier: CA375631362

Gene: NOTCH1

Linked Data

• dbSNP Id: rs768400804
• gnomAD v4: 9-136497204-G-C
• MyVariant Identifiers: chr9:g.139391656G>C (hg19) ; chr9:g.136497204G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497204G>C , CM000671.2:g.136497204G>C	GRCh38
NC_000009.11:g.139391656G>C , CM000671.1:g.139391656G>C	GRCh37
NC_000009.10:g.138511477G>C	NCBI36
NG_007458.1:g.53583C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6535C>G MANE Select	ENSP00000498587.1:p.Arg2179Gly
ENST00000679595.1:c.*1575C>G	ENSP00000506241.1:n.*1575C>G
ENST00000679969.1:n.3131C>G
ENST00000680003.1:n.2867C>G
ENST00000680133.1:c.6421C>G	ENSP00000505319.1:p.Arg2141Gly
ENST00000680218.1:c.6415C>G	ENSP00000505339.1:p.Arg2139Gly
ENST00000680668.1:c.6421C>G	ENSP00000506336.1:p.Arg2141Gly
ENST00000680778.1:c.4132C>G	ENSP00000506033.1:p.Arg1378Gly
ENST00000680924.1:c.*3935C>G	ENSP00000506031.1:n.*3935C>G
ENST00000681135.1:c.*4144C>G	ENSP00000506636.1:n.*4144C>G
ENST00000681298.1:n.4640C>G
ENST00000681454.1:c.*5771C>G	ENSP00000505763.1:n.*5771C>G
ENST00000277541.6:c.6535C>G	ENSP00000277541.6:p.Arg2179Gly
NM_017617.3:c.6535C>G	NP_060087.3:p.Arg2179Gly
XM_011518717.1:c.5836C>G	XP_011517019.1:p.Arg1946Gly
NM_017617.5:c.6535C>G MANE Select	NP_060087.3:p.Arg2179Gly
XM_011518717.2:c.5812C>G	XP_011517019.2:p.Arg1938Gly