Canonical Allele Identifier: CA375634058

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139393425C>G (hg19) ; chr9:g.136498973C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498973C>G , CM000671.2:g.136498973C>G	GRCh38
NC_000009.11:g.139393425C>G , CM000671.1:g.139393425C>G	GRCh37
NC_000009.10:g.138513246C>G	NCBI36
NG_007458.1:g.51814G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6106G>C MANE Select	ENSP00000498587.1:p.Ala2036Pro
ENST00000679595.1:c.*1146G>C	ENSP00000506241.1:n.*1146G>C
ENST00000679969.1:n.2702G>C
ENST00000680003.1:n.2438G>C
ENST00000680133.1:c.5992G>C	ENSP00000505319.1:p.Ala1998Pro
ENST00000680218.1:c.5986G>C	ENSP00000505339.1:p.Ala1996Pro
ENST00000680668.1:c.5992G>C	ENSP00000506336.1:p.Ala1998Pro
ENST00000680778.1:c.3703G>C	ENSP00000506033.1:p.Ala1235Pro
ENST00000680924.1:c.*3506G>C	ENSP00000506031.1:n.*3506G>C
ENST00000681135.1:c.*3715G>C	ENSP00000506636.1:n.*3715G>C
ENST00000681298.1:n.4211G>C
ENST00000681454.1:c.*5342G>C	ENSP00000505763.1:n.*5342G>C
ENST00000277541.6:c.6106G>C	ENSP00000277541.6:p.Ala2036Pro
NM_017617.3:c.6106G>C	NP_060087.3:p.Ala2036Pro
XM_011518717.1:c.5407G>C	XP_011517019.1:p.Ala1803Pro
NM_017617.5:c.6106G>C MANE Select	NP_060087.3:p.Ala2036Pro
XM_011518717.2:c.5383G>C	XP_011517019.2:p.Ala1795Pro