Canonical Allele Identifier: CA375631515

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391701T>A (hg19) ; chr9:g.136497249T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497249T>A , CM000671.2:g.136497249T>A	GRCh38
NC_000009.11:g.139391701T>A , CM000671.1:g.139391701T>A	GRCh37
NC_000009.10:g.138511522T>A	NCBI36
NG_007458.1:g.53538A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6490A>T MANE Select	ENSP00000498587.1:p.Lys2164Ter
ENST00000679595.1:c.*1530A>T	ENSP00000506241.1:n.*1530A>T
ENST00000679969.1:n.3086A>T
ENST00000680003.1:n.2822A>T
ENST00000680133.1:c.6376A>T	ENSP00000505319.1:p.Lys2126Ter
ENST00000680218.1:c.6370A>T	ENSP00000505339.1:p.Lys2124Ter
ENST00000680668.1:c.6376A>T	ENSP00000506336.1:p.Lys2126Ter
ENST00000680778.1:c.4087A>T	ENSP00000506033.1:p.Lys1363Ter
ENST00000680924.1:c.*3890A>T	ENSP00000506031.1:n.*3890A>T
ENST00000681135.1:c.*4099A>T	ENSP00000506636.1:n.*4099A>T
ENST00000681298.1:n.4595A>T
ENST00000681454.1:c.*5726A>T	ENSP00000505763.1:n.*5726A>T
ENST00000277541.6:c.6490A>T	ENSP00000277541.6:p.Lys2164Ter
NM_017617.3:c.6490A>T	NP_060087.3:p.Lys2164Ter
XM_011518717.1:c.5791A>T	XP_011517019.1:p.Lys1931Ter
NM_017617.5:c.6490A>T MANE Select	NP_060087.3:p.Lys2164Ter
XM_011518717.2:c.5767A>T	XP_011517019.2:p.Lys1923Ter