Canonical Allele Identifier: CA375646100

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399554G>C (hg19) ; chr9:g.136505102G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505102G>C , CM000671.2:g.136505102G>C	GRCh38
NC_000009.11:g.139399554G>C , CM000671.1:g.139399554G>C	GRCh37
NC_000009.10:g.138519375G>C	NCBI36
NG_007458.1:g.45685C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2396C>G
ENST00000651671.1:c.4589C>G MANE Select	ENSP00000498587.1:p.Pro1530Arg
ENST00000679595.1:c.4589C>G	ENSP00000506241.1:p.Pro1530Arg
ENST00000680133.1:c.4475C>G	ENSP00000505319.1:p.Pro1492Arg
ENST00000680218.1:c.4469C>G	ENSP00000505339.1:p.Pro1490Arg
ENST00000680668.1:c.4475C>G	ENSP00000506336.1:p.Pro1492Arg
ENST00000680778.1:c.2186C>G	ENSP00000506033.1:p.Pro729Arg
ENST00000680924.1:c.*1989C>G	ENSP00000506031.1:n.*1989C>G
ENST00000681135.1:c.*2198C>G	ENSP00000506636.1:n.*2198C>G
ENST00000681298.1:n.1402C>G
ENST00000681454.1:c.*3825C>G	ENSP00000505763.1:n.*3825C>G
ENST00000277541.6:c.4589C>G	ENSP00000277541.6:p.Pro1530Arg
NM_017617.3:c.4589C>G	NP_060087.3:p.Pro1530Arg
XM_011518717.1:c.3890C>G	XP_011517019.1:p.Pro1297Arg
NM_017617.5:c.4589C>G MANE Select	NP_060087.3:p.Pro1530Arg
XM_011518717.2:c.3866C>G	XP_011517019.2:p.Pro1289Arg