Canonical Allele Identifier: CA375644285

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335941
• gnomAD v4: 9-136504745-T-C
• MyVariant Identifiers: chr9:g.139399197T>C (hg19) ; chr9:g.136504745T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504745T>C , CM000671.2:g.136504745T>C	GRCh38
NC_000009.11:g.139399197T>C , CM000671.1:g.139399197T>C	GRCh37
NC_000009.10:g.138519018T>C	NCBI36
NG_007458.1:g.46042A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2753A>G
ENST00000651671.1:c.4946A>G MANE Select	ENSP00000498587.1:p.Lys1649Arg
ENST00000679595.1:c.4946A>G	ENSP00000506241.1:p.Lys1649Arg
ENST00000680133.1:c.4832A>G	ENSP00000505319.1:p.Lys1611Arg
ENST00000680218.1:c.4826A>G	ENSP00000505339.1:p.Lys1609Arg
ENST00000680668.1:c.4832A>G	ENSP00000506336.1:p.Lys1611Arg
ENST00000680778.1:c.2543A>G	ENSP00000506033.1:p.Lys848Arg
ENST00000680924.1:c.*2346A>G	ENSP00000506031.1:n.*2346A>G
ENST00000681135.1:c.*2555A>G	ENSP00000506636.1:n.*2555A>G
ENST00000681298.1:n.1759A>G
ENST00000681454.1:c.*4182A>G	ENSP00000505763.1:n.*4182A>G
ENST00000277541.6:c.4946A>G	ENSP00000277541.6:p.Lys1649Arg
ENST00000494783.1:n.101A>G
NM_017617.3:c.4946A>G	NP_060087.3:p.Lys1649Arg
XM_011518717.1:c.4247A>G	XP_011517019.1:p.Lys1416Arg
NM_017617.5:c.4946A>G MANE Select	NP_060087.3:p.Lys1649Arg
XM_011518717.2:c.4223A>G	XP_011517019.2:p.Lys1408Arg