Canonical Allele Identifier: CA487257398
Gene: NUMB HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.73743403C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73276695C>A , CM000676.2:g.73276695C>A GRCh38
NC_000014.8:g.73743403C>A , CM000676.1:g.73743403C>A GRCh37
NC_000014.7:g.72813156C>A NCBI36
NG_029061.2:g.186886G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555238.6:c.1839G>T MANE Select ENSP00000451300.1:p.Val613=
ENST00000355058.7:c.1839G>T ENSP00000347169.3:p.Val613=
ENST00000356296.8:c.1695G>T ENSP00000348644.4:p.Val565=
ENST00000359560.7:c.1806G>T ENSP00000352563.3:p.Val602=
ENST00000535282.5:c.1695G>T ENSP00000441258.2:p.Val565=
ENST00000544991.7:c.1254G>T ENSP00000446001.3:p.Val418=
ENST00000554521.6:c.1221G>T ENSP00000450817.2:p.Val407=
ENST00000554546.5:c.1662G>T ENSP00000452416.1:p.Val554=
ENST00000555238.5:c.1839G>T ENSP00000451300.1:p.Val613=
ENST00000555394.5:c.1695G>T ENSP00000451625.1:p.Val565=
ENST00000555738.6:c.1368G>T ENSP00000452069.2:p.Val456=
ENST00000556772.5:c.1407G>T ENSP00000451513.1:p.Val469=
ENST00000557597.5:c.1806G>T ENSP00000451117.1:p.Val602=
ENST00000559312.5:c.1254G>T ENSP00000452888.1:p.Val418=
ENST00000560335.5:c.1401G>T ENSP00000453209.1:p.Val467=
NM_001005743.1:c.1839G>T NP_001005743.1:p.Val613=
NM_001005744.1:c.1695G>T NP_001005744.1:p.Val565=
NM_001005745.1:c.1662G>T NP_001005745.1:p.Val554=
NM_003744.5:c.1806G>T NP_003735.3:p.Val602=
XM_005268142.3:c.1839G>T XP_005268199.1:p.Val613=
XM_005268144.3:c.1806G>T XP_005268201.1:p.Val602=
XM_005268145.3:c.1797G>T XP_005268202.1:p.Val599=
XM_005268146.3:c.1695G>T XP_005268203.1:p.Val565=
XM_011537253.1:c.1839G>T XP_011535555.1:p.Val613=
XM_011537254.1:c.1839G>T XP_011535556.1:p.Val613=
XM_011537255.1:c.1839G>T XP_011535557.1:p.Val613=
XM_011537256.1:c.1830G>T XP_011535558.1:p.Val610=
XM_011537257.1:c.1806G>T XP_011535559.1:p.Val602=
XM_011537258.1:c.1806G>T XP_011535560.1:p.Val602=
XM_011537259.1:c.1797G>T XP_011535561.1:p.Val599=
XM_011537260.1:c.1695G>T XP_011535562.1:p.Val565=
XM_011537261.1:c.1686G>T XP_011535563.1:p.Val562=
XM_011537262.1:c.1545G>T XP_011535564.1:p.Val515=
XM_011537263.1:c.1401G>T XP_011535565.1:p.Val467=
XM_011537264.1:c.1368G>T XP_011535566.1:p.Val456=
NM_001320114.1:c.1695G>T NP_001307043.1:p.Val565=
NM_001005743.2:c.1839G>T MANE Select NP_001005743.1:p.Val613=
NM_001005744.2:c.1695G>T NP_001005744.1:p.Val565=
NM_001005745.2:c.1662G>T NP_001005745.1:p.Val554=
NM_001320114.2:c.1695G>T NP_001307043.1:p.Val565=
NM_003744.6:c.1806G>T NP_003735.3:p.Val602=