Canonical Allele Identifier: CA8770245

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75755726C>T , CM000679.2:g.75755726C>T GRCh38
NC_000017.10:g.73751807C>T , CM000679.1:g.73751807C>T GRCh37
NC_000017.9:g.71263402C>T NCBI36
NG_007372.1:g.39292C>T
NG_008079.2:g.14474G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000449880.7:c.4533C>T (ITGB4) ENSP00000400217.2:p.Pro1511=
ENST00000200181.8:c.4584C>T (ITGB4) MANE Select ENSP00000200181.3:p.Pro1528=
ENST00000200181.7:c.4584C>T (ITGB4) ENSP00000200181.3:p.Pro1528=
ENST00000225614.6:c.*22+2308G>A (GALK1) ENSP00000225614.1:n.*22+2308G>A
ENST00000449880.6:c.4533C>T (ITGB4) ENSP00000400217.2:p.Pro1511=
ENST00000450894.7:c.4374C>T (ITGB4) ENSP00000405536.3:p.Pro1458=
ENST00000579211.1:n.359C>T (ITGB4)
ENST00000579662.5:c.4374C>T (ITGB4) ENSP00000463651.1:p.Pro1458=
ENST00000582629.1:c.266-1900C>T (ITGB4) ENSP00000463788.1:n.266-1900C>T
ENST00000583327.2:n.617C>T (ITGB4)
ENST00000584939.1:c.199-703C>T (ITGB4)
ENST00000589643.1:n.254+2308G>A (GALK1)
NM_000213.3:c.4584C>T (ITGB4) NP_000204.3:p.Pro1528=
NM_001005619.1:c.4533C>T (ITGB4) NP_001005619.1:p.Pro1511=
NM_001005731.1:c.4374C>T (ITGB4) NP_001005731.1:p.Pro1458=
XM_005257309.2:c.4743C>T (ITGB4) XP_005257366.1:p.Pro1581=
XM_005257311.3:c.4743C>T (ITGB4) XP_005257368.1:p.Pro1581=
XM_005257312.2:c.4374C>T (ITGB4) XP_005257369.1:p.Pro1458=
XM_006721866.2:c.4848C>T (ITGB4) XP_006721929.1:p.Pro1616=
XM_006721867.2:c.4689C>T (ITGB4) XP_006721930.1:p.Pro1563=
XM_006721868.2:c.4638C>T (ITGB4) XP_006721931.1:p.Pro1546=
XM_006721870.2:c.4479C>T (ITGB4) XP_006721933.1:p.Pro1493=
XM_011524751.1:c.4664-703C>T (ITGB4) XP_011523053.1:n.4664-703C>T
XM_011524752.1:c.2688C>T (ITGB4) XP_011523054.1:p.Pro896=
NM_000213.4:c.4584C>T (ITGB4) NP_000204.3:p.Pro1528=
NM_001005731.2:c.4374C>T (ITGB4) NP_001005731.1:p.Pro1458=
NM_001321123.1:c.4374C>T (ITGB4) NP_001308052.1:p.Pro1458=
XM_005257311.4:c.4743C>T (ITGB4) XP_005257368.1:p.Pro1581=
XM_006721866.3:c.4848C>T (ITGB4) XP_006721929.1:p.Pro1616=
XM_006721867.3:c.4689C>T (ITGB4) XP_006721930.1:p.Pro1563=
XM_006721868.3:c.4638C>T (ITGB4) XP_006721931.1:p.Pro1546=
XM_006721870.3:c.4479C>T (ITGB4) XP_006721933.1:p.Pro1493=
XM_011524751.2:c.4664-703C>T (ITGB4) XP_011523053.1:n.4664-703C>T
XM_011524752.2:c.2688C>T (ITGB4) XP_011523054.1:p.Pro896=
NM_000213.5:c.4584C>T (ITGB4) MANE Select NP_000204.3:p.Pro1528=
NM_001005731.3:c.4374C>T (ITGB4) NP_001005731.1:p.Pro1458=
NM_001321123.2:c.4374C>T (ITGB4) NP_001308052.1:p.Pro1458=
NM_001381985.1:c.*22+2308G>A (GALK1) NP_001368914.1:n.*22+2308G>A