Canonical Allele Identifier: CA375644765

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1223921509
• MyVariant Identifiers: chr9:g.139399308C>G (hg19) ; chr9:g.136504856C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504856C>G , CM000671.2:g.136504856C>G	GRCh38
NC_000009.11:g.139399308C>G , CM000671.1:g.139399308C>G	GRCh37
NC_000009.10:g.138519129C>G	NCBI36
NG_007458.1:g.45931G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2642G>C
ENST00000651671.1:c.4835G>C MANE Select	ENSP00000498587.1:p.Gly1612Ala
ENST00000679595.1:c.4835G>C	ENSP00000506241.1:p.Gly1612Ala
ENST00000680133.1:c.4721G>C	ENSP00000505319.1:p.Gly1574Ala
ENST00000680218.1:c.4715G>C	ENSP00000505339.1:p.Gly1572Ala
ENST00000680668.1:c.4721G>C	ENSP00000506336.1:p.Gly1574Ala
ENST00000680778.1:c.2432G>C	ENSP00000506033.1:p.Gly811Ala
ENST00000680924.1:c.*2235G>C	ENSP00000506031.1:n.*2235G>C
ENST00000681135.1:c.*2444G>C	ENSP00000506636.1:n.*2444G>C
ENST00000681298.1:n.1648G>C
ENST00000681454.1:c.*4071G>C	ENSP00000505763.1:n.*4071G>C
ENST00000277541.6:c.4835G>C	ENSP00000277541.6:p.Gly1612Ala
NM_017617.3:c.4835G>C	NP_060087.3:p.Gly1612Ala
XM_011518717.1:c.4136G>C	XP_011517019.1:p.Gly1379Ala
NM_017617.5:c.4835G>C MANE Select	NP_060087.3:p.Gly1612Ala
XM_011518717.2:c.4112G>C	XP_011517019.2:p.Gly1371Ala