Canonical Allele Identifier: CA401058162
Community Standard Title: NM_000213.5(ITGB4):c.2012G>C (p.Cys671Ser)
Gene: ITGB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75737343G>C , CM000679.2:g.75737343G>C GRCh38
NC_000017.10:g.73733424G>C , CM000679.1:g.73733424G>C GRCh37
NC_000017.9:g.71245019G>C NCBI36
NG_007372.1:g.20909G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000213.5:c.2012G>C MANE Select NP_000204.3:p.Cys671Ser
ENST00000200181.8:c.2012G>C MANE Select ENSP00000200181.3:p.Cys671Ser
NM_000213.3:c.2012G>C NP_000204.3:p.Cys671Ser
NM_000213.4:c.2012G>C NP_000204.3:p.Cys671Ser
NM_001005619.1:c.2012G>C NP_001005619.1:p.Cys671Ser
NM_001005731.1:c.2012G>C NP_001005731.1:p.Cys671Ser
NM_001005731.2:c.2012G>C NP_001005731.1:p.Cys671Ser
NM_001005731.3:c.2012G>C NP_001005731.1:p.Cys671Ser
NM_001321123.1:c.2012G>C NP_001308052.1:p.Cys671Ser
NM_001321123.2:c.2012G>C NP_001308052.1:p.Cys671Ser
ENST00000200181.7:c.2012G>C ENSP00000200181.3:p.Cys671Ser
ENST00000449880.6:c.2012G>C ENSP00000400217.2:p.Cys671Ser
ENST00000449880.7:c.2012G>C ENSP00000400217.2:p.Cys671Ser
ENST00000450894.7:c.2012G>C ENSP00000405536.3:p.Cys671Ser
ENST00000579662.5:c.2012G>C ENSP00000463651.1:p.Cys671Ser
ENST00000580542.5:n.2077G>C
ENST00000582629.1:c.265+7966G>C ENSP00000463788.1:n.265+7966G>C
ENST00000584374.1:n.789G>C
ENST00000584558.5:n.2012G>C
XM_005257309.2:c.2012G>C XP_005257366.1:p.Cys671Ser
XM_005257311.3:c.2012G>C XP_005257368.1:p.Cys671Ser
XM_005257311.4:c.2012G>C XP_005257368.1:p.Cys671Ser
XM_005257312.2:c.2012G>C XP_005257369.1:p.Cys671Ser
XM_006721866.2:c.2117G>C XP_006721929.1:p.Cys706Ser
XM_006721866.3:c.2117G>C XP_006721929.1:p.Cys706Ser
XM_006721867.2:c.2117G>C XP_006721930.1:p.Cys706Ser
XM_006721867.3:c.2117G>C XP_006721930.1:p.Cys706Ser
XM_006721868.2:c.2117G>C XP_006721931.1:p.Cys706Ser
XM_006721868.3:c.2117G>C XP_006721931.1:p.Cys706Ser
XM_006721870.2:c.2117G>C XP_006721933.1:p.Cys706Ser
XM_006721870.3:c.2117G>C XP_006721933.1:p.Cys706Ser
XM_011524751.1:c.2117G>C XP_011523053.1:p.Cys706Ser
XM_011524751.2:c.2117G>C XP_011523053.1:p.Cys706Ser
XM_011524752.1:c.-44G>C XP_011523054.1:n.-44G>C
XM_011524752.2:c.-44G>C XP_011523054.1:n.-44G>C