Canonical Allele Identifier: CA375644675

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1406481520
• MyVariant Identifiers: chr9:g.139399291G>C (hg19) ; chr9:g.136504839G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504839G>C , CM000671.2:g.136504839G>C	GRCh38
NC_000009.11:g.139399291G>C , CM000671.1:g.139399291G>C	GRCh37
NC_000009.10:g.138519112G>C	NCBI36
NG_007458.1:g.45948C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2659C>G
ENST00000651671.1:c.4852C>G MANE Select	ENSP00000498587.1:p.Pro1618Ala
ENST00000679595.1:c.4852C>G	ENSP00000506241.1:p.Pro1618Ala
ENST00000680133.1:c.4738C>G	ENSP00000505319.1:p.Pro1580Ala
ENST00000680218.1:c.4732C>G	ENSP00000505339.1:p.Pro1578Ala
ENST00000680668.1:c.4738C>G	ENSP00000506336.1:p.Pro1580Ala
ENST00000680778.1:c.2449C>G	ENSP00000506033.1:p.Pro817Ala
ENST00000680924.1:c.*2252C>G	ENSP00000506031.1:n.*2252C>G
ENST00000681135.1:c.*2461C>G	ENSP00000506636.1:n.*2461C>G
ENST00000681298.1:n.1665C>G
ENST00000681454.1:c.*4088C>G	ENSP00000505763.1:n.*4088C>G
ENST00000277541.6:c.4852C>G	ENSP00000277541.6:p.Pro1618Ala
ENST00000494783.1:n.7C>G
NM_017617.3:c.4852C>G	NP_060087.3:p.Pro1618Ala
XM_011518717.1:c.4153C>G	XP_011517019.1:p.Pro1385Ala
NM_017617.5:c.4852C>G MANE Select	NP_060087.3:p.Pro1618Ala
XM_011518717.2:c.4129C>G	XP_011517019.2:p.Pro1377Ala