Canonical Allele Identifier: CA257303

Linked Data

ClinVar Variation Id: 14737
ClinVar RCV Id: RCV000015858
dbSNP Id: rs121912464

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75755785G>A , CM000679.2:g.75755785G>A GRCh38
NC_000017.10:g.73751866G>A , CM000679.1:g.73751866G>A GRCh37
NC_000017.9:g.71263461G>A NCBI36
NG_007372.1:g.39351G>A
NG_008079.2:g.14415C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000449880.7:c.4592G>A (ITGB4) ENSP00000400217.2:p.Trp1531Ter
ENST00000200181.8:c.4643G>A (ITGB4) MANE Select ENSP00000200181.3:p.Trp1548Ter
ENST00000200181.7:c.4643G>A (ITGB4) ENSP00000200181.3:p.Trp1548Ter
ENST00000225614.6:c.*22+2249C>T (GALK1) ENSP00000225614.1:n.*22+2249C>T
ENST00000449880.6:c.4592G>A (ITGB4) ENSP00000400217.2:p.Trp1531Ter
ENST00000450894.7:c.4433G>A (ITGB4) ENSP00000405536.3:p.Trp1478Ter
ENST00000579662.5:c.4433G>A (ITGB4) ENSP00000463651.1:p.Trp1478Ter
ENST00000582629.1:c.266-1841G>A (ITGB4) ENSP00000463788.1:n.266-1841G>A
ENST00000583327.2:n.676G>A (ITGB4)
ENST00000584939.1:c.199-644G>A (ITGB4)
ENST00000589643.1:n.254+2249C>T (GALK1)
NM_000213.3:c.4643G>A (ITGB4) NP_000204.3:p.Trp1548Ter
NM_001005619.1:c.4592G>A (ITGB4) NP_001005619.1:p.Trp1531Ter
NM_001005731.1:c.4433G>A (ITGB4) NP_001005731.1:p.Trp1478Ter
XM_005257309.2:c.4802G>A (ITGB4) XP_005257366.1:p.Trp1601Ter
XM_005257311.3:c.4802G>A (ITGB4) XP_005257368.1:p.Trp1601Ter
XM_005257312.2:c.4433G>A (ITGB4) XP_005257369.1:p.Trp1478Ter
XM_006721866.2:c.4907G>A (ITGB4) XP_006721929.1:p.Trp1636Ter
XM_006721867.2:c.4748G>A (ITGB4) XP_006721930.1:p.Trp1583Ter
XM_006721868.2:c.4697G>A (ITGB4) XP_006721931.1:p.Trp1566Ter
XM_006721870.2:c.4538G>A (ITGB4) XP_006721933.1:p.Trp1513Ter
XM_011524751.1:c.4664-644G>A (ITGB4) XP_011523053.1:n.4664-644G>A
XM_011524752.1:c.2747G>A (ITGB4) XP_011523054.1:p.Trp916Ter
NM_000213.4:c.4643G>A (ITGB4) NP_000204.3:p.Trp1548Ter
NM_001005731.2:c.4433G>A (ITGB4) NP_001005731.1:p.Trp1478Ter
NM_001321123.1:c.4433G>A (ITGB4) NP_001308052.1:p.Trp1478Ter
XM_005257311.4:c.4802G>A (ITGB4) XP_005257368.1:p.Trp1601Ter
XM_006721866.3:c.4907G>A (ITGB4) XP_006721929.1:p.Trp1636Ter
XM_006721867.3:c.4748G>A (ITGB4) XP_006721930.1:p.Trp1583Ter
XM_006721868.3:c.4697G>A (ITGB4) XP_006721931.1:p.Trp1566Ter
XM_006721870.3:c.4538G>A (ITGB4) XP_006721933.1:p.Trp1513Ter
XM_011524751.2:c.4664-644G>A (ITGB4) XP_011523053.1:n.4664-644G>A
XM_011524752.2:c.2747G>A (ITGB4) XP_011523054.1:p.Trp916Ter
NM_000213.5:c.4643G>A (ITGB4) MANE Select NP_000204.3:p.Trp1548Ter
NM_001005731.3:c.4433G>A (ITGB4) NP_001005731.1:p.Trp1478Ter
NM_001321123.2:c.4433G>A (ITGB4) NP_001308052.1:p.Trp1478Ter
NM_001381985.1:c.*22+2249C>T (GALK1) NP_001368914.1:n.*22+2249C>T