Canonical Allele Identifier: CA2275668137

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75757323G= , CM000679.2:g.75757323G= GRCh38
NC_000017.10:g.73753404G= , CM000679.1:g.73753404G= GRCh37
NC_000017.9:g.71264999G= NCBI36
NG_007372.1:g.40889G=
NG_008079.1:g.12877C=
NG_008079.2:g.12877C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000449880.7:c.5278+13G= (ITGB4) ENSP00000400217.2:n.5278+13G=
ENST00000200181.8:c.5329+13G= (ITGB4) MANE Select ENSP00000200181.3:n.5329+13G=
ENST00000200181.7:c.5329+13G= (ITGB4) ENSP00000200181.3:n.5329+13G=
ENST00000225614.6:c.*22+711C= (GALK1) ENSP00000225614.1:n.*22+711C=
ENST00000449880.6:c.5278+13G= (ITGB4) ENSP00000400217.2:n.5278+13G=
ENST00000450894.7:c.5119+13G= (ITGB4) ENSP00000405536.3:n.5119+13G=
ENST00000578318.1:c.193G= (ITGB4)
ENST00000579662.5:c.5119+13G= (ITGB4) ENSP00000463651.1:n.5119+13G=
ENST00000582629.1:c.266-303G= (ITGB4) ENSP00000463788.1:n.266-303G=
ENST00000589643.1:n.254+711C= (GALK1)
NM_000213.3:c.5329+13G= (ITGB4) NP_000204.3:n.5329+13G=
NM_001005619.1:c.5278+13G= (ITGB4) NP_001005619.1:n.5278+13G=
NM_001005731.1:c.5119+13G= (ITGB4) NP_001005731.1:n.5119+13G=
XM_005257309.2:c.5488+13G= (ITGB4) XP_005257366.1:n.5488+13G=
XM_005257311.3:c.5488+13G= (ITGB4) XP_005257368.1:n.5488+13G=
XM_005257312.2:c.5119+13G= (ITGB4) XP_005257369.1:n.5119+13G=
XM_006721866.2:c.5593+13G= (ITGB4) XP_006721929.1:n.5593+13G=
XM_006721867.2:c.5434+13G= (ITGB4) XP_006721930.1:n.5434+13G=
XM_006721868.2:c.5383+13G= (ITGB4) XP_006721931.1:n.5383+13G=
XM_006721870.2:c.5224+13G= (ITGB4) XP_006721933.1:n.5224+13G=
XM_011524751.1:c.5284+13G= (ITGB4) XP_011523053.1:n.5284+13G=
XM_011524752.1:c.3433+13G= (ITGB4) XP_011523054.1:n.3433+13G=
NM_000213.4:c.5329+13G= (ITGB4) NP_000204.3:n.5329+13G=
NM_001005731.2:c.5119+13G= (ITGB4) NP_001005731.1:n.5119+13G=
NM_001321123.1:c.5119+13G= (ITGB4) NP_001308052.1:n.5119+13G=
XM_005257311.4:c.5488+13G= (ITGB4) XP_005257368.1:n.5488+13G=
XM_006721866.3:c.5593+13G= (ITGB4) XP_006721929.1:n.5593+13G=
XM_006721867.3:c.5434+13G= (ITGB4) XP_006721930.1:n.5434+13G=
XM_006721868.3:c.5383+13G= (ITGB4) XP_006721931.1:n.5383+13G=
XM_006721870.3:c.5224+13G= (ITGB4) XP_006721933.1:n.5224+13G=
XM_011524751.2:c.5284+13G= (ITGB4) XP_011523053.1:n.5284+13G=
XM_011524752.2:c.3433+13G= (ITGB4) XP_011523054.1:n.3433+13G=
NM_000213.5:c.5329+13G= (ITGB4) MANE Select NP_000204.3:n.5329+13G=
NM_001005731.3:c.5119+13G= (ITGB4) NP_001005731.1:n.5119+13G=
NM_001321123.2:c.5119+13G= (ITGB4) NP_001308052.1:n.5119+13G=
NM_001381985.1:c.*22+711C= (GALK1) NP_001368914.1:n.*22+711C=