Canonical Allele Identifier: CA375634280

Gene: NOTCH1

Linked Data

• dbSNP Id: rs553831698
• MyVariant Identifiers: chr9:g.139393580G>C (hg19) ; chr9:g.136499128G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499128G>C , CM000671.2:g.136499128G>C	GRCh38
NC_000009.11:g.139393580G>C , CM000671.1:g.139393580G>C	GRCh37
NC_000009.10:g.138513401G>C	NCBI36
NG_007458.1:g.51659C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6066C>G MANE Select	ENSP00000498587.1:p.Asn2022Lys
ENST00000679595.1:c.*1106C>G	ENSP00000506241.1:n.*1106C>G
ENST00000679969.1:n.2547C>G
ENST00000680003.1:n.2398C>G
ENST00000680133.1:c.5952C>G	ENSP00000505319.1:p.Asn1984Lys
ENST00000680218.1:c.5946C>G	ENSP00000505339.1:p.Asn1982Lys
ENST00000680668.1:c.5952C>G	ENSP00000506336.1:p.Asn1984Lys
ENST00000680778.1:c.3663C>G	ENSP00000506033.1:p.Asn1221Lys
ENST00000680924.1:c.*3466C>G	ENSP00000506031.1:n.*3466C>G
ENST00000681135.1:c.*3675C>G	ENSP00000506636.1:n.*3675C>G
ENST00000681298.1:n.4171C>G
ENST00000681454.1:c.*5302C>G	ENSP00000505763.1:n.*5302C>G
ENST00000277541.6:c.6066C>G	ENSP00000277541.6:p.Asn2022Lys
NM_017617.3:c.6066C>G	NP_060087.3:p.Asn2022Lys
XM_011518717.1:c.5367C>G	XP_011517019.1:p.Asn1789Lys
NM_017617.5:c.6066C>G MANE Select	NP_060087.3:p.Asn2022Lys
XM_011518717.2:c.5343C>G	XP_011517019.2:p.Asn1781Lys