Canonical Allele Identifier: CA8770100

Gene: ITGB4 GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75754646G>A , CM000679.2:g.75754646G>A	GRCh38
NC_000017.10:g.73750727G>A , CM000679.1:g.73750727G>A	GRCh37
NC_000017.9:g.71262322G>A	NCBI36
NG_007372.1:g.38212G>A
NG_008079.2:g.15554C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000213.5:c.4389G>A (ITGB4) MANE Select	NP_000204.3:p.Thr1463=
ENST00000200181.8:c.4389G>A (ITGB4) MANE Select	ENSP00000200181.3:p.Thr1463=
NM_000213.3:c.4389G>A (ITGB4)	NP_000204.3:p.Thr1463=
NM_000213.4:c.4389G>A (ITGB4)	NP_000204.3:p.Thr1463=
NM_001005619.1:c.4179G>A (ITGB4)	NP_001005619.1:p.Thr1393=
NM_001005731.1:c.4179G>A (ITGB4)	NP_001005731.1:p.Thr1393=
NM_001005731.2:c.4179G>A (ITGB4)	NP_001005731.1:p.Thr1393=
NM_001005731.3:c.4179G>A (ITGB4)	NP_001005731.1:p.Thr1393=
NM_001321123.1:c.4179G>A (ITGB4)	NP_001308052.1:p.Thr1393=
NM_001321123.2:c.4179G>A (ITGB4)	NP_001308052.1:p.Thr1393=
NM_001381985.1:c.*23-2909C>T (GALK1)	NP_001368914.1:n.*23-2909C>T
ENST00000200181.7:c.4389G>A (ITGB4)	ENSP00000200181.3:p.Thr1463=
ENST00000225614.6:c.*23-2909C>T (GALK1)	ENSP00000225614.1:n.*23-2909C>T
ENST00000449880.6:c.4179G>A (ITGB4)	ENSP00000400217.2:p.Thr1393=
ENST00000449880.7:c.4179G>A (ITGB4)	ENSP00000400217.2:p.Thr1393=
ENST00000450894.7:c.4179G>A (ITGB4)	ENSP00000405536.3:p.Thr1393=
ENST00000579211.1:n.164G>A (ITGB4)
ENST00000579662.5:c.4179G>A (ITGB4)	ENSP00000463651.1:p.Thr1393=
ENST00000582629.1:c.266-2980G>A (ITGB4)	ENSP00000463788.1:n.266-2980G>A
ENST00000583327.2:n.422G>A (ITGB4)
ENST00000584939.1:c.29G>A (ITGB4)
ENST00000589643.1:n.255-2909C>T (GALK1)
XM_005257309.2:c.4389G>A (ITGB4)	XP_005257366.1:p.Thr1463=
XM_005257311.3:c.4389G>A (ITGB4)	XP_005257368.1:p.Thr1463=
XM_005257311.4:c.4389G>A (ITGB4)	XP_005257368.1:p.Thr1463=
XM_005257312.2:c.4179G>A (ITGB4)	XP_005257369.1:p.Thr1393=
XM_006721866.2:c.4494G>A (ITGB4)	XP_006721929.1:p.Thr1498=
XM_006721866.3:c.4494G>A (ITGB4)	XP_006721929.1:p.Thr1498=
XM_006721867.2:c.4494G>A (ITGB4)	XP_006721930.1:p.Thr1498=
XM_006721867.3:c.4494G>A (ITGB4)	XP_006721930.1:p.Thr1498=
XM_006721868.2:c.4284G>A (ITGB4)	XP_006721931.1:p.Thr1428=
XM_006721868.3:c.4284G>A (ITGB4)	XP_006721931.1:p.Thr1428=
XM_006721870.2:c.4284G>A (ITGB4)	XP_006721933.1:p.Thr1428=
XM_006721870.3:c.4284G>A (ITGB4)	XP_006721933.1:p.Thr1428=
XM_011524751.1:c.4494G>A (ITGB4)	XP_011523053.1:p.Thr1498=
XM_011524751.2:c.4494G>A (ITGB4)	XP_011523053.1:p.Thr1498=
XM_011524752.1:c.2334G>A (ITGB4)	XP_011523054.1:p.Thr778=
XM_011524752.2:c.2334G>A (ITGB4)	XP_011523054.1:p.Thr778=