Canonical Allele Identifier: CA8769683

Gene: ITGB4

Linked Data

• ClinVar Variation Id: 325174
• ClinVar RCV Id: RCV000371609 ; RCV002504102 ; RCV003556336
• dbSNP Id: rs139146525
• ExAC: 17:73739888 C / T
• gnomAD v2: 17-73739888-C-T
• gnomAD v3: 17-75743807-C-T
• gnomAD v4: 17-75743807-C-T
• MyVariant Identifiers: chr17:g.73739888C>T (hg19) ; chr17:g.75743807C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75743807C>T , CM000679.2:g.75743807C>T	GRCh38
NC_000017.10:g.73739888C>T , CM000679.1:g.73739888C>T	GRCh37
NC_000017.9:g.71251483C>T	NCBI36
NG_007372.1:g.27373C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449880.7:c.3057C>T	ENSP00000400217.2:p.Gly1019=
ENST00000200181.8:c.3057C>T MANE Select	ENSP00000200181.3:p.Gly1019=
ENST00000200181.7:c.3057C>T	ENSP00000200181.3:p.Gly1019=
ENST00000449880.6:c.3057C>T	ENSP00000400217.2:p.Gly1019=
ENST00000450894.7:c.3057C>T	ENSP00000405536.3:p.Gly1019=
ENST00000579662.5:c.3057C>T	ENSP00000463651.1:p.Gly1019=
ENST00000582629.1:c.266-13819C>T	ENSP00000463788.1:n.266-13819C>T
ENST00000584025.1:n.433C>T
NM_000213.3:c.3057C>T	NP_000204.3:p.Gly1019=
NM_001005619.1:c.3057C>T	NP_001005619.1:p.Gly1019=
NM_001005731.1:c.3057C>T	NP_001005731.1:p.Gly1019=
XM_005257309.2:c.3057C>T	XP_005257366.1:p.Gly1019=
XM_005257311.3:c.3057C>T	XP_005257368.1:p.Gly1019=
XM_005257312.2:c.3057C>T	XP_005257369.1:p.Gly1019=
XM_006721866.2:c.3162C>T	XP_006721929.1:p.Gly1054=
XM_006721867.2:c.3162C>T	XP_006721930.1:p.Gly1054=
XM_006721868.2:c.3162C>T	XP_006721931.1:p.Gly1054=
XM_006721870.2:c.3162C>T	XP_006721933.1:p.Gly1054=
XM_011524751.1:c.3162C>T	XP_011523053.1:p.Gly1054=
XM_011524752.1:c.1002C>T	XP_011523054.1:p.Gly334=
NM_000213.4:c.3057C>T	NP_000204.3:p.Gly1019=
NM_001005731.2:c.3057C>T	NP_001005731.1:p.Gly1019=
NM_001321123.1:c.3057C>T	NP_001308052.1:p.Gly1019=
XM_005257311.4:c.3057C>T	XP_005257368.1:p.Gly1019=
XM_006721866.3:c.3162C>T	XP_006721929.1:p.Gly1054=
XM_006721867.3:c.3162C>T	XP_006721930.1:p.Gly1054=
XM_006721868.3:c.3162C>T	XP_006721931.1:p.Gly1054=
XM_006721870.3:c.3162C>T	XP_006721933.1:p.Gly1054=
XM_011524751.2:c.3162C>T	XP_011523053.1:p.Gly1054=
XM_011524752.2:c.1002C>T	XP_011523054.1:p.Gly334=
NM_000213.5:c.3057C>T MANE Select	NP_000204.3:p.Gly1019=
NM_001005731.3:c.3057C>T	NP_001005731.1:p.Gly1019=
NM_001321123.2:c.3057C>T	NP_001308052.1:p.Gly1019=