Canonical Allele Identifier: CA8770550

Gene: ITGB4 GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75757294C>T , CM000679.2:g.75757294C>T	GRCh38
NC_000017.10:g.73753375C>T , CM000679.1:g.73753375C>T	GRCh37
NC_000017.9:g.71264970C>T	NCBI36
NG_007372.1:g.40860C>T
NG_008079.1:g.12906G>A
NG_008079.2:g.12906G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000213.5:c.5313C>T (ITGB4) MANE Select	NP_000204.3:p.Thr1771=
ENST00000200181.8:c.5313C>T (ITGB4) MANE Select	ENSP00000200181.3:p.Thr1771=
NM_000213.3:c.5313C>T (ITGB4)	NP_000204.3:p.Thr1771=
NM_000213.4:c.5313C>T (ITGB4)	NP_000204.3:p.Thr1771=
NM_001005619.1:c.5262C>T (ITGB4)	NP_001005619.1:p.Thr1754=
NM_001005731.1:c.5103C>T (ITGB4)	NP_001005731.1:p.Thr1701=
NM_001005731.2:c.5103C>T (ITGB4)	NP_001005731.1:p.Thr1701=
NM_001005731.3:c.5103C>T (ITGB4)	NP_001005731.1:p.Thr1701=
NM_001321123.1:c.5103C>T (ITGB4)	NP_001308052.1:p.Thr1701=
NM_001321123.2:c.5103C>T (ITGB4)	NP_001308052.1:p.Thr1701=
NM_001381985.1:c.*22+740G>A (GALK1)	NP_001368914.1:n.*22+740G>A
ENST00000200181.7:c.5313C>T (ITGB4)	ENSP00000200181.3:p.Thr1771=
ENST00000225614.6:c.*22+740G>A (GALK1)	ENSP00000225614.1:n.*22+740G>A
ENST00000449880.6:c.5262C>T (ITGB4)	ENSP00000400217.2:p.Thr1754=
ENST00000449880.7:c.5262C>T (ITGB4)	ENSP00000400217.2:p.Thr1754=
ENST00000450894.7:c.5103C>T (ITGB4)	ENSP00000405536.3:p.Thr1701=
ENST00000578318.1:c.164C>T (ITGB4)
ENST00000579662.5:c.5103C>T (ITGB4)	ENSP00000463651.1:p.Thr1701=
ENST00000582629.1:c.266-332C>T (ITGB4)	ENSP00000463788.1:n.266-332C>T
ENST00000589643.1:n.254+740G>A (GALK1)
XM_005257309.2:c.5472C>T (ITGB4)	XP_005257366.1:p.Thr1824=
XM_005257311.3:c.5472C>T (ITGB4)	XP_005257368.1:p.Thr1824=
XM_005257311.4:c.5472C>T (ITGB4)	XP_005257368.1:p.Thr1824=
XM_005257312.2:c.5103C>T (ITGB4)	XP_005257369.1:p.Thr1701=
XM_006721866.2:c.5577C>T (ITGB4)	XP_006721929.1:p.Thr1859=
XM_006721866.3:c.5577C>T (ITGB4)	XP_006721929.1:p.Thr1859=
XM_006721867.2:c.5418C>T (ITGB4)	XP_006721930.1:p.Thr1806=
XM_006721867.3:c.5418C>T (ITGB4)	XP_006721930.1:p.Thr1806=
XM_006721868.2:c.5367C>T (ITGB4)	XP_006721931.1:p.Thr1789=
XM_006721868.3:c.5367C>T (ITGB4)	XP_006721931.1:p.Thr1789=
XM_006721870.2:c.5208C>T (ITGB4)	XP_006721933.1:p.Thr1736=
XM_006721870.3:c.5208C>T (ITGB4)	XP_006721933.1:p.Thr1736=
XM_011524751.1:c.5268C>T (ITGB4)	XP_011523053.1:p.Thr1756=
XM_011524751.2:c.5268C>T (ITGB4)	XP_011523053.1:p.Thr1756=
XM_011524752.1:c.3417C>T (ITGB4)	XP_011523054.1:p.Thr1139=
XM_011524752.2:c.3417C>T (ITGB4)	XP_011523054.1:p.Thr1139=