Canonical Allele Identifier: CA375645308

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399419A>G (hg19) ; chr9:g.136504967A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504967A>G , CM000671.2:g.136504967A>G	GRCh38
NC_000009.11:g.139399419A>G , CM000671.1:g.139399419A>G	GRCh37
NC_000009.10:g.138519240A>G	NCBI36
NG_007458.1:g.45820T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2531T>C
ENST00000651671.1:c.4724T>C MANE Select	ENSP00000498587.1:p.Val1575Ala
ENST00000679595.1:c.4724T>C	ENSP00000506241.1:p.Val1575Ala
ENST00000680133.1:c.4610T>C	ENSP00000505319.1:p.Val1537Ala
ENST00000680218.1:c.4604T>C	ENSP00000505339.1:p.Val1535Ala
ENST00000680668.1:c.4610T>C	ENSP00000506336.1:p.Val1537Ala
ENST00000680778.1:c.2321T>C	ENSP00000506033.1:p.Val774Ala
ENST00000680924.1:c.*2124T>C	ENSP00000506031.1:n.*2124T>C
ENST00000681135.1:c.*2333T>C	ENSP00000506636.1:n.*2333T>C
ENST00000681298.1:n.1537T>C
ENST00000681454.1:c.*3960T>C	ENSP00000505763.1:n.*3960T>C
ENST00000277541.6:c.4724T>C	ENSP00000277541.6:p.Val1575Ala
NM_017617.3:c.4724T>C	NP_060087.3:p.Val1575Ala
XM_011518717.1:c.4025T>C	XP_011517019.1:p.Val1342Ala
NM_017617.5:c.4724T>C MANE Select	NP_060087.3:p.Val1575Ala
XM_011518717.2:c.4001T>C	XP_011517019.2:p.Val1334Ala