Canonical Allele Identifier: CA404315645
Community Standard Title: NM_001365902.3(NFIX):c.487G>T (p.Val163Phe)
Gene: NFIX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13025480G>T , CM000681.2:g.13025480G>T GRCh38
NC_000019.9:g.13136294G>T , CM000681.1:g.13136294G>T GRCh37
NC_000019.8:g.12997294G>T NCBI36
NG_032925.2:g.34711G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001365902.3:c.487G>T MANE Select NP_001352831.1:p.Val163Phe
ENST00000592199.6:c.487G>T MANE Select ENSP00000467512.1:p.Val163Phe
NM_001271043.2:c.511G>T NP_001257972.1:p.Val171Phe
NM_001271044.2:c.463G>T NP_001257973.1:p.Val155Phe
NM_001271044.3:c.463G>T NP_001257973.1:p.Val155Phe
NM_001365902.1:c.487G>T NP_001352831.1:p.Val163Phe
NM_001365902.2:c.487G>T NP_001352831.1:p.Val163Phe
NM_001365982.1:c.487G>T NP_001352911.1:p.Val163Phe
NM_001365982.2:c.487G>T NP_001352911.1:p.Val163Phe
NM_001365983.1:c.346G>T NP_001352912.1:p.Val116Phe
NM_001365983.2:c.346G>T NP_001352912.1:p.Val116Phe
NM_001365984.1:c.484G>T NP_001352913.1:p.Val162Phe
NM_001365984.2:c.484G>T NP_001352913.1:p.Val162Phe
NM_001365985.1:c.484G>T NP_001352914.1:p.Val162Phe
NM_001365985.2:c.484G>T NP_001352914.1:p.Val162Phe
NM_001378404.1:c.463G>T NP_001365333.1:p.Val155Phe
NM_001378405.1:c.535G>T NP_001365334.1:p.Val179Phe
NM_002501.3:c.487G>T NP_002492.2:p.Val163Phe
NM_002501.4:c.487G>T NP_002492.2:p.Val163Phe
ENST00000358552.7:c.496G>T ENSP00000351354.4:p.Val166Phe
ENST00000358552.8:c.484G>T ENSP00000351354.5:p.Val162Phe
ENST00000360105.8:c.496G>T ENSP00000353219.4:p.Val166Phe
ENST00000397661.6:c.487G>T ENSP00000380781.2:p.Val163Phe
ENST00000585382.5:c.234+112G>T ENSP00000466605.1:n.234+112G>T
ENST00000585575.5:c.463G>T ENSP00000468794.1:p.Val155Phe
ENST00000586797.5:c.*318G>T ENSP00000467536.1:n.*318G>T
ENST00000586873.1:c.346G>T ENSP00000468707.1:p.Val116Phe
ENST00000587260.1:c.484G>T ENSP00000467785.1:p.Val162Phe
ENST00000587760.5:c.463G>T ENSP00000466389.1:p.Val155Phe
ENST00000588228.5:c.346G>T ENSP00000466735.1:p.Val116Phe
ENST00000590027.1:c.346G>T ENSP00000465616.1:p.Val116Phe
ENST00000591028.1:c.535G>T ENSP00000465094.1:p.Val179Phe
ENST00000592199.5:c.487G>T ENSP00000467512.1:p.Val163Phe
ENST00000622520.2:c.484G>T ENSP00000481181.2:p.Val162Phe
ENST00000676441.1:c.511G>T ENSP00000502554.1:p.Val171Phe
ENST00000693124.1:c.305G>T
XM_005259917.3:c.664G>T XP_005259974.1:p.Val222Phe
XM_005259917.4:c.664G>T XP_005259974.1:p.Val222Phe
XM_005259918.3:c.487G>T XP_005259975.1:p.Val163Phe
XM_005259919.3:c.664G>T XP_005259976.1:p.Val222Phe
XM_005259920.3:c.463G>T XP_005259977.1:p.Val155Phe
XM_005259921.3:c.664G>T XP_005259978.1:p.Val222Phe
XM_005259922.3:c.664G>T XP_005259979.1:p.Val222Phe
XM_006722760.2:c.664G>T XP_006722823.1:p.Val222Phe
XM_011528040.1:c.535G>T XP_011526342.1:p.Val179Phe