Canonical Allele Identifier: CA8769662
Community Standard Title: NM_000213.5(ITGB4):c.2986C>T (p.Gln996Ter)
Gene: ITGB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75743736C>T , CM000679.2:g.75743736C>T GRCh38
NC_000017.10:g.73739817C>T , CM000679.1:g.73739817C>T GRCh37
NC_000017.9:g.71251412C>T NCBI36
NG_007372.1:g.27302C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000213.5:c.2986C>T MANE Select NP_000204.3:p.Gln996Ter
ENST00000200181.8:c.2986C>T MANE Select ENSP00000200181.3:p.Gln996Ter
NM_000213.3:c.2986C>T NP_000204.3:p.Gln996Ter
NM_000213.4:c.2986C>T NP_000204.3:p.Gln996Ter
NM_001005619.1:c.2986C>T NP_001005619.1:p.Gln996Ter
NM_001005731.1:c.2986C>T NP_001005731.1:p.Gln996Ter
NM_001005731.2:c.2986C>T NP_001005731.1:p.Gln996Ter
NM_001005731.3:c.2986C>T NP_001005731.1:p.Gln996Ter
NM_001321123.1:c.2986C>T NP_001308052.1:p.Gln996Ter
NM_001321123.2:c.2986C>T NP_001308052.1:p.Gln996Ter
ENST00000200181.7:c.2986C>T ENSP00000200181.3:p.Gln996Ter
ENST00000449880.6:c.2986C>T ENSP00000400217.2:p.Gln996Ter
ENST00000449880.7:c.2986C>T ENSP00000400217.2:p.Gln996Ter
ENST00000450894.7:c.2986C>T ENSP00000405536.3:p.Gln996Ter
ENST00000579662.5:c.2986C>T ENSP00000463651.1:p.Gln996Ter
ENST00000582629.1:c.266-13890C>T ENSP00000463788.1:n.266-13890C>T
ENST00000584025.1:n.362C>T
XM_005257309.2:c.2986C>T XP_005257366.1:p.Gln996Ter
XM_005257311.3:c.2986C>T XP_005257368.1:p.Gln996Ter
XM_005257311.4:c.2986C>T XP_005257368.1:p.Gln996Ter
XM_005257312.2:c.2986C>T XP_005257369.1:p.Gln996Ter
XM_006721866.2:c.3091C>T XP_006721929.1:p.Gln1031Ter
XM_006721866.3:c.3091C>T XP_006721929.1:p.Gln1031Ter
XM_006721867.2:c.3091C>T XP_006721930.1:p.Gln1031Ter
XM_006721867.3:c.3091C>T XP_006721930.1:p.Gln1031Ter
XM_006721868.2:c.3091C>T XP_006721931.1:p.Gln1031Ter
XM_006721868.3:c.3091C>T XP_006721931.1:p.Gln1031Ter
XM_006721870.2:c.3091C>T XP_006721933.1:p.Gln1031Ter
XM_006721870.3:c.3091C>T XP_006721933.1:p.Gln1031Ter
XM_011524751.1:c.3091C>T XP_011523053.1:p.Gln1031Ter
XM_011524751.2:c.3091C>T XP_011523053.1:p.Gln1031Ter
XM_011524752.1:c.931C>T XP_011523054.1:p.Gln311Ter
XM_011524752.2:c.931C>T XP_011523054.1:p.Gln311Ter