Canonical Allele Identifier: CA375631504

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136497246-C-G
• MyVariant Identifiers: chr9:g.139391698C>G (hg19) ; chr9:g.136497246C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497246C>G , CM000671.2:g.136497246C>G	GRCh38
NC_000009.11:g.139391698C>G , CM000671.1:g.139391698C>G	GRCh37
NC_000009.10:g.138511519C>G	NCBI36
NG_007458.1:g.53541G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6493G>C MANE Select	ENSP00000498587.1:p.Gly2165Arg
ENST00000679595.1:c.*1533G>C	ENSP00000506241.1:n.*1533G>C
ENST00000679969.1:n.3089G>C
ENST00000680003.1:n.2825G>C
ENST00000680133.1:c.6379G>C	ENSP00000505319.1:p.Gly2127Arg
ENST00000680218.1:c.6373G>C	ENSP00000505339.1:p.Gly2125Arg
ENST00000680668.1:c.6379G>C	ENSP00000506336.1:p.Gly2127Arg
ENST00000680778.1:c.4090G>C	ENSP00000506033.1:p.Gly1364Arg
ENST00000680924.1:c.*3893G>C	ENSP00000506031.1:n.*3893G>C
ENST00000681135.1:c.*4102G>C	ENSP00000506636.1:n.*4102G>C
ENST00000681298.1:n.4598G>C
ENST00000681454.1:c.*5729G>C	ENSP00000505763.1:n.*5729G>C
ENST00000277541.6:c.6493G>C	ENSP00000277541.6:p.Gly2165Arg
NM_017617.3:c.6493G>C	NP_060087.3:p.Gly2165Arg
XM_011518717.1:c.5794G>C	XP_011517019.1:p.Gly1932Arg
NM_017617.5:c.6493G>C MANE Select	NP_060087.3:p.Gly2165Arg
XM_011518717.2:c.5770G>C	XP_011517019.2:p.Gly1924Arg