Canonical Allele Identifier: CA375644287

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335941
• MyVariant Identifiers: chr9:g.139399197T>A (hg19) ; chr9:g.136504745T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504745T>A , CM000671.2:g.136504745T>A	GRCh38
NC_000009.11:g.139399197T>A , CM000671.1:g.139399197T>A	GRCh37
NC_000009.10:g.138519018T>A	NCBI36
NG_007458.1:g.46042A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2753A>T
ENST00000651671.1:c.4946A>T MANE Select	ENSP00000498587.1:p.Lys1649Met
ENST00000679595.1:c.4946A>T	ENSP00000506241.1:p.Lys1649Met
ENST00000680133.1:c.4832A>T	ENSP00000505319.1:p.Lys1611Met
ENST00000680218.1:c.4826A>T	ENSP00000505339.1:p.Lys1609Met
ENST00000680668.1:c.4832A>T	ENSP00000506336.1:p.Lys1611Met
ENST00000680778.1:c.2543A>T	ENSP00000506033.1:p.Lys848Met
ENST00000680924.1:c.*2346A>T	ENSP00000506031.1:n.*2346A>T
ENST00000681135.1:c.*2555A>T	ENSP00000506636.1:n.*2555A>T
ENST00000681298.1:n.1759A>T
ENST00000681454.1:c.*4182A>T	ENSP00000505763.1:n.*4182A>T
ENST00000277541.6:c.4946A>T	ENSP00000277541.6:p.Lys1649Met
ENST00000494783.1:n.101A>T
NM_017617.3:c.4946A>T	NP_060087.3:p.Lys1649Met
XM_011518717.1:c.4247A>T	XP_011517019.1:p.Lys1416Met
NM_017617.5:c.4946A>T MANE Select	NP_060087.3:p.Lys1649Met
XM_011518717.2:c.4223A>T	XP_011517019.2:p.Lys1408Met