Canonical Allele Identifier: CA375634109

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1060504525
• gnomAD v4: 9-136498985-G-C
• MyVariant Identifiers: chr9:g.139393437G>C (hg19) ; chr9:g.136498985G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498985G>C , CM000671.2:g.136498985G>C	GRCh38
NC_000009.11:g.139393437G>C , CM000671.1:g.139393437G>C	GRCh37
NC_000009.10:g.138513258G>C	NCBI36
NG_007458.1:g.51802C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6094C>G MANE Select	ENSP00000498587.1:p.Leu2032Val
ENST00000679595.1:c.*1134C>G	ENSP00000506241.1:n.*1134C>G
ENST00000679969.1:n.2690C>G
ENST00000680003.1:n.2426C>G
ENST00000680133.1:c.5980C>G	ENSP00000505319.1:p.Leu1994Val
ENST00000680218.1:c.5974C>G	ENSP00000505339.1:p.Leu1992Val
ENST00000680668.1:c.5980C>G	ENSP00000506336.1:p.Leu1994Val
ENST00000680778.1:c.3691C>G	ENSP00000506033.1:p.Leu1231Val
ENST00000680924.1:c.*3494C>G	ENSP00000506031.1:n.*3494C>G
ENST00000681135.1:c.*3703C>G	ENSP00000506636.1:n.*3703C>G
ENST00000681298.1:n.4199C>G
ENST00000681454.1:c.*5330C>G	ENSP00000505763.1:n.*5330C>G
ENST00000277541.6:c.6094C>G	ENSP00000277541.6:p.Leu2032Val
NM_017617.3:c.6094C>G	NP_060087.3:p.Leu2032Val
XM_011518717.1:c.5395C>G	XP_011517019.1:p.Leu1799Val
NM_017617.5:c.6094C>G MANE Select	NP_060087.3:p.Leu2032Val
XM_011518717.2:c.5371C>G	XP_011517019.2:p.Leu1791Val