Canonical Allele Identifier: CA2580095171

Gene: ITGB4 GALK1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75756416C>T , CM000679.2:g.75756416C>T	GRCh38
NC_000017.10:g.73752497C>T , CM000679.1:g.73752497C>T	GRCh37
NC_000017.9:g.71264092C>T	NCBI36
NG_007372.1:g.39982C>T
NG_008079.1:g.13784G>A
NG_008079.2:g.13784G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000213.5:c.4709-13C>T (ITGB4) MANE Select	NP_000204.3:n.4709-13C>T
ENST00000200181.8:c.4709-13C>T (ITGB4) MANE Select	ENSP00000200181.3:n.4709-13C>T
NM_000213.3:c.4709-13C>T (ITGB4)	NP_000204.3:n.4709-13C>T
NM_000213.4:c.4709-13C>T (ITGB4)	NP_000204.3:n.4709-13C>T
NM_001005619.1:c.4658-13C>T (ITGB4)	NP_001005619.1:n.4658-13C>T
NM_001005731.1:c.4499-13C>T (ITGB4)	NP_001005731.1:n.4499-13C>T
NM_001005731.2:c.4499-13C>T (ITGB4)	NP_001005731.1:n.4499-13C>T
NM_001005731.3:c.4499-13C>T (ITGB4)	NP_001005731.1:n.4499-13C>T
NM_001321123.1:c.4499-13C>T (ITGB4)	NP_001308052.1:n.4499-13C>T
NM_001321123.2:c.4499-13C>T (ITGB4)	NP_001308052.1:n.4499-13C>T
NM_001381985.1:c.*22+1618G>A (GALK1)	NP_001368914.1:n.*22+1618G>A
ENST00000200181.7:c.4709-13C>T (ITGB4)	ENSP00000200181.3:n.4709-13C>T
ENST00000225614.6:c.*22+1618G>A (GALK1)	ENSP00000225614.1:n.*22+1618G>A
ENST00000449880.6:c.4658-13C>T (ITGB4)	ENSP00000400217.2:n.4658-13C>T
ENST00000449880.7:c.4658-13C>T (ITGB4)	ENSP00000400217.2:n.4658-13C>T
ENST00000450894.7:c.4499-13C>T (ITGB4)	ENSP00000405536.3:n.4499-13C>T
ENST00000579662.5:c.4499-13C>T (ITGB4)	ENSP00000463651.1:n.4499-13C>T
ENST00000582629.1:c.266-1210C>T (ITGB4)	ENSP00000463788.1:n.266-1210C>T
ENST00000584939.1:c.199-13C>T (ITGB4)
ENST00000589643.1:n.254+1618G>A (GALK1)
XM_005257309.2:c.4868-13C>T (ITGB4)	XP_005257366.1:n.4868-13C>T
XM_005257311.3:c.4868-13C>T (ITGB4)	XP_005257368.1:n.4868-13C>T
XM_005257311.4:c.4868-13C>T (ITGB4)	XP_005257368.1:n.4868-13C>T
XM_005257312.2:c.4499-13C>T (ITGB4)	XP_005257369.1:n.4499-13C>T
XM_006721866.2:c.4973-13C>T (ITGB4)	XP_006721929.1:n.4973-13C>T
XM_006721866.3:c.4973-13C>T (ITGB4)	XP_006721929.1:n.4973-13C>T
XM_006721867.2:c.4814-13C>T (ITGB4)	XP_006721930.1:n.4814-13C>T
XM_006721867.3:c.4814-13C>T (ITGB4)	XP_006721930.1:n.4814-13C>T
XM_006721868.2:c.4763-13C>T (ITGB4)	XP_006721931.1:n.4763-13C>T
XM_006721868.3:c.4763-13C>T (ITGB4)	XP_006721931.1:n.4763-13C>T
XM_006721870.2:c.4604-13C>T (ITGB4)	XP_006721933.1:n.4604-13C>T
XM_006721870.3:c.4604-13C>T (ITGB4)	XP_006721933.1:n.4604-13C>T
XM_011524751.1:c.4664-13C>T (ITGB4)	XP_011523053.1:n.4664-13C>T
XM_011524751.2:c.4664-13C>T (ITGB4)	XP_011523053.1:n.4664-13C>T
XM_011524752.1:c.2813-13C>T (ITGB4)	XP_011523054.1:n.2813-13C>T
XM_011524752.2:c.2813-13C>T (ITGB4)	XP_011523054.1:n.2813-13C>T