Canonical Allele Identifier: CA375643924

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335647
• MyVariant Identifiers: chr9:g.139399131A>C (hg19) ; chr9:g.136504679A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504679A>C , CM000671.2:g.136504679A>C	GRCh38
NC_000009.11:g.139399131A>C , CM000671.1:g.139399131A>C	GRCh37
NC_000009.10:g.138518952A>C	NCBI36
NG_007458.1:g.46108T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2819T>G
ENST00000651671.1:c.5012T>G MANE Select	ENSP00000498587.1:p.Val1671Gly
ENST00000679595.1:c.5012T>G	ENSP00000506241.1:p.Val1671Gly
ENST00000680133.1:c.4898T>G	ENSP00000505319.1:p.Val1633Gly
ENST00000680218.1:c.4892T>G	ENSP00000505339.1:p.Val1631Gly
ENST00000680668.1:c.4898T>G	ENSP00000506336.1:p.Val1633Gly
ENST00000680778.1:c.2609T>G	ENSP00000506033.1:p.Val870Gly
ENST00000680924.1:c.*2412T>G	ENSP00000506031.1:n.*2412T>G
ENST00000681135.1:c.*2621T>G	ENSP00000506636.1:n.*2621T>G
ENST00000681298.1:n.1825T>G
ENST00000681454.1:c.*4248T>G	ENSP00000505763.1:n.*4248T>G
ENST00000277541.6:c.5012T>G	ENSP00000277541.6:p.Val1671Gly
ENST00000494783.1:n.167T>G
NM_017617.3:c.5012T>G	NP_060087.3:p.Val1671Gly
XM_011518717.1:c.4313T>G	XP_011517019.1:p.Val1438Gly
NM_017617.5:c.5012T>G MANE Select	NP_060087.3:p.Val1671Gly
XM_011518717.2:c.4289T>G	XP_011517019.2:p.Val1430Gly