Canonical Allele Identifier: CA401039031

Gene: ITGB4

Linked Data

• ClinVar Variation Id: 591318
• ClinVar RCV Id: RCV000722496
• dbSNP Id: rs1313828612
• gnomAD v3: 17-75727759-C-T
• gnomAD v4: 17-75727759-C-T
• MyVariant Identifiers: chr17:g.73723840C>T (hg19) ; chr17:g.75727759C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75727759C>T , CM000679.2:g.75727759C>T	GRCh38
NC_000017.10:g.73723840C>T , CM000679.1:g.73723840C>T	GRCh37
NC_000017.9:g.71235435C>T	NCBI36
NG_007372.1:g.11325C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000449880.7:c.373C>T	ENSP00000400217.2:p.Pro125Ser
ENST00000200181.8:c.373C>T MANE Select	ENSP00000200181.3:p.Pro125Ser
ENST00000200181.7:c.373C>T	ENSP00000200181.3:p.Pro125Ser
ENST00000449880.6:c.373C>T	ENSP00000400217.2:p.Pro125Ser
ENST00000450894.7:c.373C>T	ENSP00000405536.3:p.Pro125Ser
ENST00000579662.5:c.373C>T	ENSP00000463651.1:p.Pro125Ser
ENST00000580542.5:n.438C>T
ENST00000584558.5:n.373C>T
NM_000213.3:c.373C>T	NP_000204.3:p.Pro125Ser
NM_001005619.1:c.373C>T	NP_001005619.1:p.Pro125Ser
NM_001005731.1:c.373C>T	NP_001005731.1:p.Pro125Ser
XM_005257309.2:c.373C>T	XP_005257366.1:p.Pro125Ser
XM_005257311.3:c.373C>T	XP_005257368.1:p.Pro125Ser
XM_005257312.2:c.373C>T	XP_005257369.1:p.Pro125Ser
XM_006721866.2:c.478C>T	XP_006721929.1:p.Pro160Ser
XM_006721867.2:c.478C>T	XP_006721930.1:p.Pro160Ser
XM_006721868.2:c.478C>T	XP_006721931.1:p.Pro160Ser
XM_006721870.2:c.478C>T	XP_006721933.1:p.Pro160Ser
XM_011524751.1:c.478C>T	XP_011523053.1:p.Pro160Ser
NM_000213.4:c.373C>T	NP_000204.3:p.Pro125Ser
NM_001005731.2:c.373C>T	NP_001005731.1:p.Pro125Ser
NM_001321123.1:c.373C>T	NP_001308052.1:p.Pro125Ser
XM_005257311.4:c.373C>T	XP_005257368.1:p.Pro125Ser
XM_006721866.3:c.478C>T	XP_006721929.1:p.Pro160Ser
XM_006721867.3:c.478C>T	XP_006721930.1:p.Pro160Ser
XM_006721868.3:c.478C>T	XP_006721931.1:p.Pro160Ser
XM_006721870.3:c.478C>T	XP_006721933.1:p.Pro160Ser
XM_011524751.2:c.478C>T	XP_011523053.1:p.Pro160Ser
NM_000213.5:c.373C>T MANE Select	NP_000204.3:p.Pro125Ser
NM_001005731.3:c.373C>T	NP_001005731.1:p.Pro125Ser
NM_001321123.2:c.373C>T	NP_001308052.1:p.Pro125Ser