Canonical Allele Identifier: CA5340036

Gene: NOTCH1

Linked Data

• dbSNP Id: rs377493295
• ExAC: 9:139393527 G / A
• gnomAD v2: 9-139393527-G-A
• gnomAD v3: 9-136499075-G-A
• gnomAD v4: 9-136499075-G-A
• MyVariant Identifiers: chr9:g.139393527G>A (hg19) ; chr9:g.136499075G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499075G>A , CM000671.2:g.136499075G>A	GRCh38
NC_000009.11:g.139393527G>A , CM000671.1:g.139393527G>A	GRCh37
NC_000009.10:g.138513348G>A	NCBI36
NG_007458.1:g.51712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6082+37C>T MANE Select	ENSP00000498587.1:n.6082+37C>T
ENST00000679595.1:c.*1122+37C>T	ENSP00000506241.1:n.*1122+37C>T
ENST00000679969.1:n.2600C>T
ENST00000680003.1:n.2414+37C>T
ENST00000680133.1:c.5968+37C>T	ENSP00000505319.1:n.5968+37C>T
ENST00000680218.1:c.5962+37C>T	ENSP00000505339.1:n.5962+37C>T
ENST00000680668.1:c.5968+37C>T	ENSP00000506336.1:n.5968+37C>T
ENST00000680778.1:c.3679+37C>T	ENSP00000506033.1:n.3679+37C>T
ENST00000680924.1:c.*3482+37C>T	ENSP00000506031.1:n.*3482+37C>T
ENST00000681135.1:c.*3691+37C>T	ENSP00000506636.1:n.*3691+37C>T
ENST00000681298.1:n.4187+37C>T
ENST00000681454.1:c.*5318+37C>T	ENSP00000505763.1:n.*5318+37C>T
ENST00000277541.6:c.6082+37C>T	ENSP00000277541.6:n.6082+37C>T
NM_017617.3:c.6082+37C>T	NP_060087.3:n.6082+37C>T
XM_011518717.1:c.5383+37C>T	XP_011517019.1:n.5383+37C>T
NM_017617.5:c.6082+37C>T MANE Select	NP_060087.3:n.6082+37C>T
XM_011518717.2:c.5359+37C>T	XP_011517019.2:n.5359+37C>T