Canonical Allele Identifier: CA375644465

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1247642509
• MyVariant Identifiers: chr9:g.139399246G>C (hg19) ; chr9:g.136504794G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504794G>C , CM000671.2:g.136504794G>C	GRCh38
NC_000009.11:g.139399246G>C , CM000671.1:g.139399246G>C	GRCh37
NC_000009.10:g.138519067G>C	NCBI36
NG_007458.1:g.45993C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2704C>G
ENST00000651671.1:c.4897C>G MANE Select	ENSP00000498587.1:p.Arg1633Gly
ENST00000679595.1:c.4897C>G	ENSP00000506241.1:p.Arg1633Gly
ENST00000680133.1:c.4783C>G	ENSP00000505319.1:p.Arg1595Gly
ENST00000680218.1:c.4777C>G	ENSP00000505339.1:p.Arg1593Gly
ENST00000680668.1:c.4783C>G	ENSP00000506336.1:p.Arg1595Gly
ENST00000680778.1:c.2494C>G	ENSP00000506033.1:p.Arg832Gly
ENST00000680924.1:c.*2297C>G	ENSP00000506031.1:n.*2297C>G
ENST00000681135.1:c.*2506C>G	ENSP00000506636.1:n.*2506C>G
ENST00000681298.1:n.1710C>G
ENST00000681454.1:c.*4133C>G	ENSP00000505763.1:n.*4133C>G
ENST00000277541.6:c.4897C>G	ENSP00000277541.6:p.Arg1633Gly
ENST00000494783.1:n.52C>G
NM_017617.3:c.4897C>G	NP_060087.3:p.Arg1633Gly
XM_011518717.1:c.4198C>G	XP_011517019.1:p.Arg1400Gly
NM_017617.5:c.4897C>G MANE Select	NP_060087.3:p.Arg1633Gly
XM_011518717.2:c.4174C>G	XP_011517019.2:p.Arg1392Gly