Canonical Allele Identifier: CA375631345

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391651C>A (hg19) ; chr9:g.136497199C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497199C>A , CM000671.2:g.136497199C>A	GRCh38
NC_000009.11:g.139391651C>A , CM000671.1:g.139391651C>A	GRCh37
NC_000009.10:g.138511472C>A	NCBI36
NG_007458.1:g.53588G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6540G>T MANE Select	ENSP00000498587.1:p.Arg2180Ser
ENST00000679595.1:c.*1580G>T	ENSP00000506241.1:n.*1580G>T
ENST00000679969.1:n.3136G>T
ENST00000680003.1:n.2872G>T
ENST00000680133.1:c.6426G>T	ENSP00000505319.1:p.Arg2142Ser
ENST00000680218.1:c.6420G>T	ENSP00000505339.1:p.Arg2140Ser
ENST00000680668.1:c.6426G>T	ENSP00000506336.1:p.Arg2142Ser
ENST00000680778.1:c.4137G>T	ENSP00000506033.1:p.Arg1379Ser
ENST00000680924.1:c.*3940G>T	ENSP00000506031.1:n.*3940G>T
ENST00000681135.1:c.*4149G>T	ENSP00000506636.1:n.*4149G>T
ENST00000681298.1:n.4645G>T
ENST00000681454.1:c.*5776G>T	ENSP00000505763.1:n.*5776G>T
ENST00000277541.6:c.6540G>T	ENSP00000277541.6:p.Arg2180Ser
NM_017617.3:c.6540G>T	NP_060087.3:p.Arg2180Ser
XM_011518717.1:c.5841G>T	XP_011517019.1:p.Arg1947Ser
NM_017617.5:c.6540G>T MANE Select	NP_060087.3:p.Arg2180Ser
XM_011518717.2:c.5817G>T	XP_011517019.2:p.Arg1939Ser