Canonical Allele Identifier: CA375644308

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399203T>G (hg19) ; chr9:g.136504751T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504751T>G , CM000671.2:g.136504751T>G	GRCh38
NC_000009.11:g.139399203T>G , CM000671.1:g.139399203T>G	GRCh37
NC_000009.10:g.138519024T>G	NCBI36
NG_007458.1:g.46036A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2747A>C
ENST00000651671.1:c.4940A>C MANE Select	ENSP00000498587.1:p.Gln1647Pro
ENST00000679595.1:c.4940A>C	ENSP00000506241.1:p.Gln1647Pro
ENST00000680133.1:c.4826A>C	ENSP00000505319.1:p.Gln1609Pro
ENST00000680218.1:c.4820A>C	ENSP00000505339.1:p.Gln1607Pro
ENST00000680668.1:c.4826A>C	ENSP00000506336.1:p.Gln1609Pro
ENST00000680778.1:c.2537A>C	ENSP00000506033.1:p.Gln846Pro
ENST00000680924.1:c.*2340A>C	ENSP00000506031.1:n.*2340A>C
ENST00000681135.1:c.*2549A>C	ENSP00000506636.1:n.*2549A>C
ENST00000681298.1:n.1753A>C
ENST00000681454.1:c.*4176A>C	ENSP00000505763.1:n.*4176A>C
ENST00000277541.6:c.4940A>C	ENSP00000277541.6:p.Gln1647Pro
ENST00000494783.1:n.95A>C
NM_017617.3:c.4940A>C	NP_060087.3:p.Gln1647Pro
XM_011518717.1:c.4241A>C	XP_011517019.1:p.Gln1414Pro
NM_017617.5:c.4940A>C MANE Select	NP_060087.3:p.Gln1647Pro
XM_011518717.2:c.4217A>C	XP_011517019.2:p.Gln1406Pro