Canonical Allele Identifier: CA375631130

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391599A>C (hg19) ; chr9:g.136497147A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497147A>C , CM000671.2:g.136497147A>C	GRCh38
NC_000009.11:g.139391599A>C , CM000671.1:g.139391599A>C	GRCh37
NC_000009.10:g.138511420A>C	NCBI36
NG_007458.1:g.53640T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6592T>G MANE Select	ENSP00000498587.1:p.Ser2198Ala
ENST00000679595.1:c.*1632T>G	ENSP00000506241.1:n.*1632T>G
ENST00000679969.1:n.3188T>G
ENST00000680003.1:n.2924T>G
ENST00000680133.1:c.6478T>G	ENSP00000505319.1:p.Ser2160Ala
ENST00000680218.1:c.6472T>G	ENSP00000505339.1:p.Ser2158Ala
ENST00000680668.1:c.6478T>G	ENSP00000506336.1:p.Ser2160Ala
ENST00000680778.1:c.4189T>G	ENSP00000506033.1:p.Ser1397Ala
ENST00000680924.1:c.*3992T>G	ENSP00000506031.1:n.*3992T>G
ENST00000681135.1:c.*4201T>G	ENSP00000506636.1:n.*4201T>G
ENST00000681298.1:n.4697T>G
ENST00000681454.1:c.*5828T>G	ENSP00000505763.1:n.*5828T>G
ENST00000277541.6:c.6592T>G	ENSP00000277541.6:p.Ser2198Ala
NM_017617.3:c.6592T>G	NP_060087.3:p.Ser2198Ala
XM_011518717.1:c.5893T>G	XP_011517019.1:p.Ser1965Ala
NM_017617.5:c.6592T>G MANE Select	NP_060087.3:p.Ser2198Ala
XM_011518717.2:c.5869T>G	XP_011517019.2:p.Ser1957Ala