Canonical Allele Identifier: CA467741925

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335775
• gnomAD v4: 9-136504708-C-A
• MyVariant Identifiers: chr9:g.139399160C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504708C>A , CM000671.2:g.136504708C>A	GRCh38
NC_000009.11:g.139399160C>A , CM000671.1:g.139399160C>A	GRCh37
NC_000009.10:g.138518981C>A	NCBI36
NG_007458.1:g.46079G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2790G>T
ENST00000651671.1:c.4983G>T MANE Select	ENSP00000498587.1:p.Arg1661=
ENST00000679595.1:c.4983G>T	ENSP00000506241.1:p.Arg1661=
ENST00000680133.1:c.4869G>T	ENSP00000505319.1:p.Arg1623=
ENST00000680218.1:c.4863G>T	ENSP00000505339.1:p.Arg1621=
ENST00000680668.1:c.4869G>T	ENSP00000506336.1:p.Arg1623=
ENST00000680778.1:c.2580G>T	ENSP00000506033.1:p.Arg860=
ENST00000680924.1:c.*2383G>T	ENSP00000506031.1:n.*2383G>T
ENST00000681135.1:c.*2592G>T	ENSP00000506636.1:n.*2592G>T
ENST00000681298.1:n.1796G>T
ENST00000681454.1:c.*4219G>T	ENSP00000505763.1:n.*4219G>T
ENST00000277541.6:c.4983G>T	ENSP00000277541.6:p.Arg1661=
ENST00000494783.1:n.138G>T
NM_017617.3:c.4983G>T	NP_060087.3:p.Arg1661=
XM_011518717.1:c.4284G>T	XP_011517019.1:p.Arg1428=
NM_017617.5:c.4983G>T MANE Select	NP_060087.3:p.Arg1661=
XM_011518717.2:c.4260G>T	XP_011517019.2:p.Arg1420=