Canonical Allele Identifier: CA13980441

Gene: NUMB

Linked Data

• dbSNP Id: rs2108552
• gnomAD v2: 14-73876926-G-C
• gnomAD v3: 14-73410218-G-C
• gnomAD v4: 14-73410218-G-C
• MyVariant Identifiers: chr14:g.73876926G>C (hg19) ; chr14:g.73410218G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73410218G>C , CM000676.2:g.73410218G>C	GRCh38
NC_000014.8:g.73876926G>C , CM000676.1:g.73876926G>C	GRCh37
NC_000014.7:g.72946679G>C	NCBI36
NG_029061.2:g.53363C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000555238.6:c.-232-150C>G MANE Select	ENSP00000451300.1:n.-232-150C>G
ENST00000356296.8:c.-147-150C>G	ENSP00000348644.4:n.-147-150C>G
ENST00000553415.5:n.602-150C>G
ENST00000554315.5:n.55-150C>G
ENST00000554394.5:c.-147-150C>G	ENSP00000451374.1:n.-147-150C>G
ENST00000554546.5:c.-232-150C>G	ENSP00000452416.1:n.-232-150C>G
ENST00000554818.5:c.-232-150C>G	ENSP00000451959.1:n.-232-150C>G
ENST00000555238.5:c.-232-150C>G	ENSP00000451300.1:n.-232-150C>G
ENST00000555307.5:c.-147-150C>G	ENSP00000452357.1:n.-147-150C>G
ENST00000555394.5:c.-232-150C>G	ENSP00000451625.1:n.-232-150C>G
ENST00000555987.5:c.-232-150C>G	ENSP00000451559.1:n.-232-150C>G
ENST00000556112.5:n.86-150C>G
ENST00000556600.1:n.80-150C>G
ENST00000556700.5:n.313-150C>G
ENST00000557031.5:n.311-150C>G
ENST00000557597.5:c.-232-150C>G	ENSP00000451117.1:n.-232-150C>G
ENST00000557774.5:n.86-150C>G
NM_001005743.1:c.-232-150C>G	NP_001005743.1:n.-232-150C>G
NM_001005744.1:c.-232-150C>G	NP_001005744.1:n.-232-150C>G
NM_001005745.1:c.-232-150C>G	NP_001005745.1:n.-232-150C>G
NM_003744.5:c.-232-150C>G	NP_003735.3:n.-232-150C>G
XM_005268142.3:c.-147-150C>G	XP_005268199.1:n.-147-150C>G
XM_005268144.3:c.-147-150C>G	XP_005268201.1:n.-147-150C>G
XM_005268145.3:c.-147-150C>G	XP_005268202.1:n.-147-150C>G
XM_005268146.3:c.-147-150C>G	XP_005268203.1:n.-147-150C>G
XM_011537253.1:c.-232-150C>G	XP_011535555.1:n.-232-150C>G
XM_011537254.1:c.-100-43237C>G	XP_011535556.1:n.-100-43237C>G
XM_011537255.1:c.-16+48275C>G	XP_011535557.1:n.-16+48275C>G
XM_011537256.1:c.-232-150C>G	XP_011535558.1:n.-232-150C>G
XM_011537257.1:c.-100-43237C>G	XP_011535559.1:n.-100-43237C>G
XM_011537258.1:c.-16+48275C>G	XP_011535560.1:n.-16+48275C>G
XM_011537259.1:c.-232-150C>G	XP_011535561.1:n.-232-150C>G
XM_011537260.1:c.-147-150C>G	XP_011535562.1:n.-147-150C>G
XM_011537261.1:c.-232-150C>G	XP_011535563.1:n.-232-150C>G
XM_011537262.1:c.-232-150C>G	XP_011535564.1:n.-232-150C>G
XM_011537263.1:c.-232-150C>G	XP_011535565.1:n.-232-150C>G
XM_011537264.1:c.-232-150C>G	XP_011535566.1:n.-232-150C>G
NM_001320114.1:c.-147-150C>G	NP_001307043.1:n.-147-150C>G
NM_001005743.2:c.-232-150C>G MANE Select	NP_001005743.1:n.-232-150C>G
NM_001005744.2:c.-232-150C>G	NP_001005744.1:n.-232-150C>G
NM_001005745.2:c.-232-150C>G	NP_001005745.1:n.-232-150C>G
NM_001320114.2:c.-147-150C>G	NP_001307043.1:n.-147-150C>G
NM_003744.6:c.-232-150C>G	NP_003735.3:n.-232-150C>G