Canonical Allele Identifier: CA8770382

Gene: ITGB4 GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75756750G>A , CM000679.2:g.75756750G>A	GRCh38
NC_000017.10:g.73752831G>A , CM000679.1:g.73752831G>A	GRCh37
NC_000017.9:g.71264426G>A	NCBI36
NG_007372.1:g.40316G>A
NG_008079.1:g.13450C>T
NG_008079.2:g.13450C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449880.7:c.4893G>A (ITGB4)	ENSP00000400217.2:p.Val1631=
ENST00000200181.8:c.4944G>A (ITGB4) MANE Select	ENSP00000200181.3:p.Val1648=
ENST00000200181.7:c.4944G>A (ITGB4)	ENSP00000200181.3:p.Val1648=
ENST00000225614.6:c.*22+1284C>T (GALK1)	ENSP00000225614.1:n.*22+1284C>T
ENST00000449880.6:c.4893G>A (ITGB4)	ENSP00000400217.2:p.Val1631=
ENST00000450894.7:c.4734G>A (ITGB4)	ENSP00000405536.3:p.Val1578=
ENST00000579662.5:c.4734G>A (ITGB4)	ENSP00000463651.1:p.Val1578=
ENST00000582629.1:c.266-876G>A (ITGB4)	ENSP00000463788.1:n.266-876G>A
ENST00000584939.1:c.434G>A (ITGB4)
ENST00000589643.1:n.254+1284C>T (GALK1)
NM_000213.3:c.4944G>A (ITGB4)	NP_000204.3:p.Val1648=
NM_001005619.1:c.4893G>A (ITGB4)	NP_001005619.1:p.Val1631=
NM_001005731.1:c.4734G>A (ITGB4)	NP_001005731.1:p.Val1578=
XM_005257309.2:c.5103G>A (ITGB4)	XP_005257366.1:p.Val1701=
XM_005257311.3:c.5103G>A (ITGB4)	XP_005257368.1:p.Val1701=
XM_005257312.2:c.4734G>A (ITGB4)	XP_005257369.1:p.Val1578=
XM_006721866.2:c.5208G>A (ITGB4)	XP_006721929.1:p.Val1736=
XM_006721867.2:c.5049G>A (ITGB4)	XP_006721930.1:p.Val1683=
XM_006721868.2:c.4998G>A (ITGB4)	XP_006721931.1:p.Val1666=
XM_006721870.2:c.4839G>A (ITGB4)	XP_006721933.1:p.Val1613=
XM_011524751.1:c.4899G>A (ITGB4)	XP_011523053.1:p.Val1633=
XM_011524752.1:c.3048G>A (ITGB4)	XP_011523054.1:p.Val1016=
NM_000213.4:c.4944G>A (ITGB4)	NP_000204.3:p.Val1648=
NM_001005731.2:c.4734G>A (ITGB4)	NP_001005731.1:p.Val1578=
NM_001321123.1:c.4734G>A (ITGB4)	NP_001308052.1:p.Val1578=
XM_005257311.4:c.5103G>A (ITGB4)	XP_005257368.1:p.Val1701=
XM_006721866.3:c.5208G>A (ITGB4)	XP_006721929.1:p.Val1736=
XM_006721867.3:c.5049G>A (ITGB4)	XP_006721930.1:p.Val1683=
XM_006721868.3:c.4998G>A (ITGB4)	XP_006721931.1:p.Val1666=
XM_006721870.3:c.4839G>A (ITGB4)	XP_006721933.1:p.Val1613=
XM_011524751.2:c.4899G>A (ITGB4)	XP_011523053.1:p.Val1633=
XM_011524752.2:c.3048G>A (ITGB4)	XP_011523054.1:p.Val1016=
NM_000213.5:c.4944G>A (ITGB4) MANE Select	NP_000204.3:p.Val1648=
NM_001005731.3:c.4734G>A (ITGB4)	NP_001005731.1:p.Val1578=
NM_001321123.2:c.4734G>A (ITGB4)	NP_001308052.1:p.Val1578=
NM_001381985.1:c.*22+1284C>T (GALK1)	NP_001368914.1:n.*22+1284C>T