Canonical Allele Identifier: CA2275668194

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75757418G= , CM000679.2:g.75757418G= GRCh38
NC_000017.10:g.73753499G= , CM000679.1:g.73753499G= GRCh37
NC_000017.9:g.71265094G= NCBI36
NG_007372.1:g.40984G=
NG_008079.1:g.12782C=
NG_008079.2:g.12782C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000449880.7:c.5281G= (ITGB4) ENSP00000400217.2:p.Gly1761=
ENST00000200181.8:c.5332G= (ITGB4) MANE Select ENSP00000200181.3:p.Gly1778=
ENST00000200181.7:c.5332G= (ITGB4) ENSP00000200181.3:p.Gly1778=
ENST00000225614.6:c.*22+616C= (GALK1) ENSP00000225614.1:n.*22+616C=
ENST00000449880.6:c.5281G= (ITGB4) ENSP00000400217.2:p.Gly1761=
ENST00000450894.7:c.5122G= (ITGB4) ENSP00000405536.3:p.Gly1708=
ENST00000578318.1:c.288G= (ITGB4)
ENST00000579662.5:c.5122G= (ITGB4) ENSP00000463651.1:p.Gly1708=
ENST00000582629.1:c.266-208G= (ITGB4) ENSP00000463788.1:n.266-208G=
ENST00000589643.1:n.254+616C= (GALK1)
NM_000213.3:c.5332G= (ITGB4) NP_000204.3:p.Gly1778=
NM_001005619.1:c.5281G= (ITGB4) NP_001005619.1:p.Gly1761=
NM_001005731.1:c.5122G= (ITGB4) NP_001005731.1:p.Gly1708=
XM_005257309.2:c.5491G= (ITGB4) XP_005257366.1:p.Gly1831=
XM_005257311.3:c.5491G= (ITGB4) XP_005257368.1:p.Gly1831=
XM_005257312.2:c.5122G= (ITGB4) XP_005257369.1:p.Gly1708=
XM_006721866.2:c.5596G= (ITGB4) XP_006721929.1:p.Gly1866=
XM_006721867.2:c.5437G= (ITGB4) XP_006721930.1:p.Gly1813=
XM_006721868.2:c.5386G= (ITGB4) XP_006721931.1:p.Gly1796=
XM_006721870.2:c.5227G= (ITGB4) XP_006721933.1:p.Gly1743=
XM_011524751.1:c.5287G= (ITGB4) XP_011523053.1:p.Gly1763=
XM_011524752.1:c.3436G= (ITGB4) XP_011523054.1:p.Gly1146=
NM_000213.4:c.5332G= (ITGB4) NP_000204.3:p.Gly1778=
NM_001005731.2:c.5122G= (ITGB4) NP_001005731.1:p.Gly1708=
NM_001321123.1:c.5122G= (ITGB4) NP_001308052.1:p.Gly1708=
XM_005257311.4:c.5491G= (ITGB4) XP_005257368.1:p.Gly1831=
XM_006721866.3:c.5596G= (ITGB4) XP_006721929.1:p.Gly1866=
XM_006721867.3:c.5437G= (ITGB4) XP_006721930.1:p.Gly1813=
XM_006721868.3:c.5386G= (ITGB4) XP_006721931.1:p.Gly1796=
XM_006721870.3:c.5227G= (ITGB4) XP_006721933.1:p.Gly1743=
XM_011524751.2:c.5287G= (ITGB4) XP_011523053.1:p.Gly1763=
XM_011524752.2:c.3436G= (ITGB4) XP_011523054.1:p.Gly1146=
NM_000213.5:c.5332G= (ITGB4) MANE Select NP_000204.3:p.Gly1778=
NM_001005731.3:c.5122G= (ITGB4) NP_001005731.1:p.Gly1708=
NM_001321123.2:c.5122G= (ITGB4) NP_001308052.1:p.Gly1708=
NM_001381985.1:c.*22+616C= (GALK1) NP_001368914.1:n.*22+616C=