Canonical Allele Identifier: CA8770277

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75755849C>T , CM000679.2:g.75755849C>T GRCh38
NC_000017.10:g.73751930C>T , CM000679.1:g.73751930C>T GRCh37
NC_000017.9:g.71263525C>T NCBI36
NG_007372.1:g.39415C>T
NG_008079.2:g.14351G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000449880.7:c.4656C>T (ITGB4) ENSP00000400217.2:p.Gly1552=
ENST00000200181.8:c.4707C>T (ITGB4) MANE Select ENSP00000200181.3:p.Gly1569=
ENST00000200181.7:c.4707C>T (ITGB4) ENSP00000200181.3:p.Gly1569=
ENST00000225614.6:c.*22+2185G>A (GALK1) ENSP00000225614.1:n.*22+2185G>A
ENST00000449880.6:c.4656C>T (ITGB4) ENSP00000400217.2:p.Gly1552=
ENST00000450894.7:c.4497C>T (ITGB4) ENSP00000405536.3:p.Gly1499=
ENST00000579662.5:c.4497C>T (ITGB4) ENSP00000463651.1:p.Gly1499=
ENST00000582629.1:c.266-1777C>T (ITGB4) ENSP00000463788.1:n.266-1777C>T
ENST00000584939.1:c.199-580C>T (ITGB4)
ENST00000589643.1:n.254+2185G>A (GALK1)
NM_000213.3:c.4707C>T (ITGB4) NP_000204.3:p.Gly1569=
NM_001005619.1:c.4656C>T (ITGB4) NP_001005619.1:p.Gly1552=
NM_001005731.1:c.4497C>T (ITGB4) NP_001005731.1:p.Gly1499=
XM_005257309.2:c.4866C>T (ITGB4) XP_005257366.1:p.Gly1622=
XM_005257311.3:c.4866C>T (ITGB4) XP_005257368.1:p.Gly1622=
XM_005257312.2:c.4497C>T (ITGB4) XP_005257369.1:p.Gly1499=
XM_006721866.2:c.4971C>T (ITGB4) XP_006721929.1:p.Gly1657=
XM_006721867.2:c.4812C>T (ITGB4) XP_006721930.1:p.Gly1604=
XM_006721868.2:c.4761C>T (ITGB4) XP_006721931.1:p.Gly1587=
XM_006721870.2:c.4602C>T (ITGB4) XP_006721933.1:p.Gly1534=
XM_011524751.1:c.4664-580C>T (ITGB4) XP_011523053.1:n.4664-580C>T
XM_011524752.1:c.2811C>T (ITGB4) XP_011523054.1:p.Gly937=
NM_000213.4:c.4707C>T (ITGB4) NP_000204.3:p.Gly1569=
NM_001005731.2:c.4497C>T (ITGB4) NP_001005731.1:p.Gly1499=
NM_001321123.1:c.4497C>T (ITGB4) NP_001308052.1:p.Gly1499=
XM_005257311.4:c.4866C>T (ITGB4) XP_005257368.1:p.Gly1622=
XM_006721866.3:c.4971C>T (ITGB4) XP_006721929.1:p.Gly1657=
XM_006721867.3:c.4812C>T (ITGB4) XP_006721930.1:p.Gly1604=
XM_006721868.3:c.4761C>T (ITGB4) XP_006721931.1:p.Gly1587=
XM_006721870.3:c.4602C>T (ITGB4) XP_006721933.1:p.Gly1534=
XM_011524751.2:c.4664-580C>T (ITGB4) XP_011523053.1:n.4664-580C>T
XM_011524752.2:c.2811C>T (ITGB4) XP_011523054.1:p.Gly937=
NM_000213.5:c.4707C>T (ITGB4) MANE Select NP_000204.3:p.Gly1569=
NM_001005731.3:c.4497C>T (ITGB4) NP_001005731.1:p.Gly1499=
NM_001321123.2:c.4497C>T (ITGB4) NP_001308052.1:p.Gly1499=
NM_001381985.1:c.*22+2185G>A (GALK1) NP_001368914.1:n.*22+2185G>A