Canonical Allele Identifier: CA294085103
Community Standard Title: NM_000213.5(ITGB4):c.5301C>T (p.His1767=)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75757282C>T , CM000679.2:g.75757282C>T GRCh38
NC_000017.10:g.73753363C>T , CM000679.1:g.73753363C>T GRCh37
NC_000017.9:g.71264958C>T NCBI36
NG_007372.1:g.40848C>T
NG_008079.1:g.12918G>A
NG_008079.2:g.12918G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000213.5:c.5301C>T (ITGB4) MANE Select NP_000204.3:p.His1767=
ENST00000200181.8:c.5301C>T (ITGB4) MANE Select ENSP00000200181.3:p.His1767=
NM_000213.3:c.5301C>T (ITGB4) NP_000204.3:p.His1767=
NM_000213.4:c.5301C>T (ITGB4) NP_000204.3:p.His1767=
NM_001005619.1:c.5250C>T (ITGB4) NP_001005619.1:p.His1750=
NM_001005731.1:c.5091C>T (ITGB4) NP_001005731.1:p.His1697=
NM_001005731.2:c.5091C>T (ITGB4) NP_001005731.1:p.His1697=
NM_001005731.3:c.5091C>T (ITGB4) NP_001005731.1:p.His1697=
NM_001321123.1:c.5091C>T (ITGB4) NP_001308052.1:p.His1697=
NM_001321123.2:c.5091C>T (ITGB4) NP_001308052.1:p.His1697=
NM_001381985.1:c.*22+752G>A (GALK1) NP_001368914.1:n.*22+752G>A
ENST00000200181.7:c.5301C>T (ITGB4) ENSP00000200181.3:p.His1767=
ENST00000225614.6:c.*22+752G>A (GALK1) ENSP00000225614.1:n.*22+752G>A
ENST00000449880.6:c.5250C>T (ITGB4) ENSP00000400217.2:p.His1750=
ENST00000449880.7:c.5250C>T (ITGB4) ENSP00000400217.2:p.His1750=
ENST00000450894.7:c.5091C>T (ITGB4) ENSP00000405536.3:p.His1697=
ENST00000578318.1:c.152C>T (ITGB4)
ENST00000579662.5:c.5091C>T (ITGB4) ENSP00000463651.1:p.His1697=
ENST00000582629.1:c.266-344C>T (ITGB4) ENSP00000463788.1:n.266-344C>T
ENST00000589643.1:n.254+752G>A (GALK1)
XM_005257309.2:c.5460C>T (ITGB4) XP_005257366.1:p.His1820=
XM_005257311.3:c.5460C>T (ITGB4) XP_005257368.1:p.His1820=
XM_005257311.4:c.5460C>T (ITGB4) XP_005257368.1:p.His1820=
XM_005257312.2:c.5091C>T (ITGB4) XP_005257369.1:p.His1697=
XM_006721866.2:c.5565C>T (ITGB4) XP_006721929.1:p.His1855=
XM_006721866.3:c.5565C>T (ITGB4) XP_006721929.1:p.His1855=
XM_006721867.2:c.5406C>T (ITGB4) XP_006721930.1:p.His1802=
XM_006721867.3:c.5406C>T (ITGB4) XP_006721930.1:p.His1802=
XM_006721868.2:c.5355C>T (ITGB4) XP_006721931.1:p.His1785=
XM_006721868.3:c.5355C>T (ITGB4) XP_006721931.1:p.His1785=
XM_006721870.2:c.5196C>T (ITGB4) XP_006721933.1:p.His1732=
XM_006721870.3:c.5196C>T (ITGB4) XP_006721933.1:p.His1732=
XM_011524751.1:c.5256C>T (ITGB4) XP_011523053.1:p.His1752=
XM_011524751.2:c.5256C>T (ITGB4) XP_011523053.1:p.His1752=
XM_011524752.1:c.3405C>T (ITGB4) XP_011523054.1:p.His1135=
XM_011524752.2:c.3405C>T (ITGB4) XP_011523054.1:p.His1135=