Canonical Allele Identifier: CA8770011

Linked Data

ClinVar Variation Id: 1439340
dbSNP Id: rs140930313

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75752487G>A , CM000679.2:g.75752487G>A GRCh38
NC_000017.10:g.73748568G>A , CM000679.1:g.73748568G>A GRCh37
NC_000017.9:g.71260163G>A NCBI36
NG_007372.1:g.36053G>A
NG_008079.2:g.17713C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000449880.7:c.4018G>A (ITGB4) ENSP00000400217.2:p.Gly1340Arg
ENST00000200181.8:c.4018G>A (ITGB4) MANE Select ENSP00000200181.3:p.Gly1340Arg
ENST00000200181.7:c.4018G>A (ITGB4) ENSP00000200181.3:p.Gly1340Arg
ENST00000225614.6:c.*23-750C>T (GALK1) ENSP00000225614.1:n.*23-750C>T
ENST00000449880.6:c.4018G>A (ITGB4) ENSP00000400217.2:p.Gly1340Arg
ENST00000450894.7:c.4018G>A (ITGB4) ENSP00000405536.3:p.Gly1340Arg
ENST00000579662.5:c.4018G>A (ITGB4) ENSP00000463651.1:p.Gly1340Arg
ENST00000582629.1:c.266-5139G>A (ITGB4) ENSP00000463788.1:n.266-5139G>A
ENST00000583327.2:n.261G>A (ITGB4)
ENST00000589643.1:n.255-750C>T (GALK1)
NM_000213.3:c.4018G>A (ITGB4) NP_000204.3:p.Gly1340Arg
NM_001005619.1:c.4018G>A (ITGB4) NP_001005619.1:p.Gly1340Arg
NM_001005731.1:c.4018G>A (ITGB4) NP_001005731.1:p.Gly1340Arg
XM_005257309.2:c.4018G>A (ITGB4) XP_005257366.1:p.Gly1340Arg
XM_005257311.3:c.4018G>A (ITGB4) XP_005257368.1:p.Gly1340Arg
XM_005257312.2:c.4018G>A (ITGB4) XP_005257369.1:p.Gly1340Arg
XM_006721866.2:c.4123G>A (ITGB4) XP_006721929.1:p.Gly1375Arg
XM_006721867.2:c.4123G>A (ITGB4) XP_006721930.1:p.Gly1375Arg
XM_006721868.2:c.4123G>A (ITGB4) XP_006721931.1:p.Gly1375Arg
XM_006721870.2:c.4123G>A (ITGB4) XP_006721933.1:p.Gly1375Arg
XM_011524751.1:c.4123G>A (ITGB4) XP_011523053.1:p.Gly1375Arg
XM_011524752.1:c.1963G>A (ITGB4) XP_011523054.1:p.Gly655Arg
NM_000213.4:c.4018G>A (ITGB4) NP_000204.3:p.Gly1340Arg
NM_001005731.2:c.4018G>A (ITGB4) NP_001005731.1:p.Gly1340Arg
NM_001321123.1:c.4018G>A (ITGB4) NP_001308052.1:p.Gly1340Arg
XM_005257311.4:c.4018G>A (ITGB4) XP_005257368.1:p.Gly1340Arg
XM_006721866.3:c.4123G>A (ITGB4) XP_006721929.1:p.Gly1375Arg
XM_006721867.3:c.4123G>A (ITGB4) XP_006721930.1:p.Gly1375Arg
XM_006721868.3:c.4123G>A (ITGB4) XP_006721931.1:p.Gly1375Arg
XM_006721870.3:c.4123G>A (ITGB4) XP_006721933.1:p.Gly1375Arg
XM_011524751.2:c.4123G>A (ITGB4) XP_011523053.1:p.Gly1375Arg
XM_011524752.2:c.1963G>A (ITGB4) XP_011523054.1:p.Gly655Arg
NM_000213.5:c.4018G>A (ITGB4) MANE Select NP_000204.3:p.Gly1340Arg
NM_001005731.3:c.4018G>A (ITGB4) NP_001005731.1:p.Gly1340Arg
NM_001321123.2:c.4018G>A (ITGB4) NP_001308052.1:p.Gly1340Arg
NM_001381985.1:c.*23-750C>T (GALK1) NP_001368914.1:n.*23-750C>T