Canonical Allele Identifier: CA375644460

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399245C>G (hg19) ; chr9:g.136504793C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504793C>G , CM000671.2:g.136504793C>G	GRCh38
NC_000009.11:g.139399245C>G , CM000671.1:g.139399245C>G	GRCh37
NC_000009.10:g.138519066C>G	NCBI36
NG_007458.1:g.45994G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2705G>C
ENST00000651671.1:c.4898G>C MANE Select	ENSP00000498587.1:p.Arg1633Pro
ENST00000679595.1:c.4898G>C	ENSP00000506241.1:p.Arg1633Pro
ENST00000680133.1:c.4784G>C	ENSP00000505319.1:p.Arg1595Pro
ENST00000680218.1:c.4778G>C	ENSP00000505339.1:p.Arg1593Pro
ENST00000680668.1:c.4784G>C	ENSP00000506336.1:p.Arg1595Pro
ENST00000680778.1:c.2495G>C	ENSP00000506033.1:p.Arg832Pro
ENST00000680924.1:c.*2298G>C	ENSP00000506031.1:n.*2298G>C
ENST00000681135.1:c.*2507G>C	ENSP00000506636.1:n.*2507G>C
ENST00000681298.1:n.1711G>C
ENST00000681454.1:c.*4134G>C	ENSP00000505763.1:n.*4134G>C
ENST00000277541.6:c.4898G>C	ENSP00000277541.6:p.Arg1633Pro
ENST00000494783.1:n.53G>C
NM_017617.3:c.4898G>C	NP_060087.3:p.Arg1633Pro
XM_011518717.1:c.4199G>C	XP_011517019.1:p.Arg1400Pro
NM_017617.5:c.4898G>C MANE Select	NP_060087.3:p.Arg1633Pro
XM_011518717.2:c.4175G>C	XP_011517019.2:p.Arg1392Pro