Canonical Allele Identifier: CA375643910

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399128C>G (hg19) ; chr9:g.136504676C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504676C>G , CM000671.2:g.136504676C>G	GRCh38
NC_000009.11:g.139399128C>G , CM000671.1:g.139399128C>G	GRCh37
NC_000009.10:g.138518949C>G	NCBI36
NG_007458.1:g.46111G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2822G>C
ENST00000651671.1:c.5015G>C MANE Select	ENSP00000498587.1:p.Arg1672Pro
ENST00000679595.1:c.5015G>C	ENSP00000506241.1:p.Arg1672Pro
ENST00000680133.1:c.4901G>C	ENSP00000505319.1:p.Arg1634Pro
ENST00000680218.1:c.4895G>C	ENSP00000505339.1:p.Arg1632Pro
ENST00000680668.1:c.4901G>C	ENSP00000506336.1:p.Arg1634Pro
ENST00000680778.1:c.2612G>C	ENSP00000506033.1:p.Arg871Pro
ENST00000680924.1:c.*2415G>C	ENSP00000506031.1:n.*2415G>C
ENST00000681135.1:c.*2624G>C	ENSP00000506636.1:n.*2624G>C
ENST00000681298.1:n.1828G>C
ENST00000681454.1:c.*4251G>C	ENSP00000505763.1:n.*4251G>C
ENST00000277541.6:c.5015G>C	ENSP00000277541.6:p.Arg1672Pro
ENST00000494783.1:n.170G>C
NM_017617.3:c.5015G>C	NP_060087.3:p.Arg1672Pro
XM_011518717.1:c.4316G>C	XP_011517019.1:p.Arg1439Pro
NM_017617.5:c.5015G>C MANE Select	NP_060087.3:p.Arg1672Pro
XM_011518717.2:c.4292G>C	XP_011517019.2:p.Arg1431Pro