Canonical Allele Identifier: CA390336419

Gene: NUMB

Linked Data

• dbSNP Id: rs1421953038
• gnomAD v2: 14-73743467-A-G
• gnomAD v3: 14-73276759-A-G
• gnomAD v4: 14-73276759-A-G
• MyVariant Identifiers: chr14:g.73743467A>G (hg19) ; chr14:g.73276759A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73276759A>G , CM000676.2:g.73276759A>G	GRCh38
NC_000014.8:g.73743467A>G , CM000676.1:g.73743467A>G	GRCh37
NC_000014.7:g.72813220A>G	NCBI36
NG_029061.2:g.186822T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000555238.6:c.1775T>C MANE Select	ENSP00000451300.1:p.Val592Ala
ENST00000355058.7:c.1775T>C	ENSP00000347169.3:p.Val592Ala
ENST00000356296.8:c.1631T>C	ENSP00000348644.4:p.Val544Ala
ENST00000359560.7:c.1742T>C	ENSP00000352563.3:p.Val581Ala
ENST00000535282.5:c.1631T>C	ENSP00000441258.2:p.Val544Ala
ENST00000544991.7:c.1190T>C	ENSP00000446001.3:p.Val397Ala
ENST00000554521.6:c.1157T>C	ENSP00000450817.2:p.Val386Ala
ENST00000554546.5:c.1598T>C	ENSP00000452416.1:p.Val533Ala
ENST00000555238.5:c.1775T>C	ENSP00000451300.1:p.Val592Ala
ENST00000555394.5:c.1631T>C	ENSP00000451625.1:p.Val544Ala
ENST00000555738.6:c.1304T>C	ENSP00000452069.2:p.Val435Ala
ENST00000556772.5:c.1343T>C	ENSP00000451513.1:p.Val448Ala
ENST00000557597.5:c.1742T>C	ENSP00000451117.1:p.Val581Ala
ENST00000559312.5:c.1190T>C	ENSP00000452888.1:p.Val397Ala
ENST00000560335.5:c.1337T>C	ENSP00000453209.1:p.Val446Ala
NM_001005743.1:c.1775T>C	NP_001005743.1:p.Val592Ala
NM_001005744.1:c.1631T>C	NP_001005744.1:p.Val544Ala
NM_001005745.1:c.1598T>C	NP_001005745.1:p.Val533Ala
NM_003744.5:c.1742T>C	NP_003735.3:p.Val581Ala
XM_005268142.3:c.1775T>C	XP_005268199.1:p.Val592Ala
XM_005268144.3:c.1742T>C	XP_005268201.1:p.Val581Ala
XM_005268145.3:c.1733T>C	XP_005268202.1:p.Val578Ala
XM_005268146.3:c.1631T>C	XP_005268203.1:p.Val544Ala
XM_011537253.1:c.1775T>C	XP_011535555.1:p.Val592Ala
XM_011537254.1:c.1775T>C	XP_011535556.1:p.Val592Ala
XM_011537255.1:c.1775T>C	XP_011535557.1:p.Val592Ala
XM_011537256.1:c.1766T>C	XP_011535558.1:p.Val589Ala
XM_011537257.1:c.1742T>C	XP_011535559.1:p.Val581Ala
XM_011537258.1:c.1742T>C	XP_011535560.1:p.Val581Ala
XM_011537259.1:c.1733T>C	XP_011535561.1:p.Val578Ala
XM_011537260.1:c.1631T>C	XP_011535562.1:p.Val544Ala
XM_011537261.1:c.1622T>C	XP_011535563.1:p.Val541Ala
XM_011537262.1:c.1481T>C	XP_011535564.1:p.Val494Ala
XM_011537263.1:c.1337T>C	XP_011535565.1:p.Val446Ala
XM_011537264.1:c.1304T>C	XP_011535566.1:p.Val435Ala
NM_001320114.1:c.1631T>C	NP_001307043.1:p.Val544Ala
NM_001005743.2:c.1775T>C MANE Select	NP_001005743.1:p.Val592Ala
NM_001005744.2:c.1631T>C	NP_001005744.1:p.Val544Ala
NM_001005745.2:c.1598T>C	NP_001005745.1:p.Val533Ala
NM_001320114.2:c.1631T>C	NP_001307043.1:p.Val544Ala
NM_003744.6:c.1742T>C	NP_003735.3:p.Val581Ala