Canonical Allele Identifier: CA8768667

Gene: ITGB4

Linked Data

• dbSNP Id: rs774558979
• ExAC: 17:73723948 C / A
• gnomAD v2: 17-73723948-C-A
• gnomAD v4: 17-75727867-C-A
• MyVariant Identifiers: chr17:g.73723948C>A (hg19) ; chr17:g.75727867C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75727867C>A , CM000679.2:g.75727867C>A	GRCh38
NC_000017.10:g.73723948C>A , CM000679.1:g.73723948C>A	GRCh37
NC_000017.9:g.71235543C>A	NCBI36
NG_007372.1:g.11433C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449880.7:c.469+12C>A	ENSP00000400217.2:n.469+12C>A
ENST00000200181.8:c.469+12C>A MANE Select	ENSP00000200181.3:n.469+12C>A
ENST00000200181.7:c.469+12C>A	ENSP00000200181.3:n.469+12C>A
ENST00000449880.6:c.469+12C>A	ENSP00000400217.2:n.469+12C>A
ENST00000450894.7:c.469+12C>A	ENSP00000405536.3:n.469+12C>A
ENST00000579662.5:c.469+12C>A	ENSP00000463651.1:n.469+12C>A
ENST00000580542.5:n.534+12C>A
ENST00000582629.1:c.55+12C>A	ENSP00000463788.1:n.55+12C>A
ENST00000584558.5:n.469+12C>A
NM_000213.3:c.469+12C>A	NP_000204.3:n.469+12C>A
NM_001005619.1:c.469+12C>A	NP_001005619.1:n.469+12C>A
NM_001005731.1:c.469+12C>A	NP_001005731.1:n.469+12C>A
XM_005257309.2:c.469+12C>A	XP_005257366.1:n.469+12C>A
XM_005257311.3:c.469+12C>A	XP_005257368.1:n.469+12C>A
XM_005257312.2:c.469+12C>A	XP_005257369.1:n.469+12C>A
XM_006721866.2:c.574+12C>A	XP_006721929.1:n.574+12C>A
XM_006721867.2:c.574+12C>A	XP_006721930.1:n.574+12C>A
XM_006721868.2:c.574+12C>A	XP_006721931.1:n.574+12C>A
XM_006721870.2:c.574+12C>A	XP_006721933.1:n.574+12C>A
XM_011524751.1:c.574+12C>A	XP_011523053.1:n.574+12C>A
NM_000213.4:c.469+12C>A	NP_000204.3:n.469+12C>A
NM_001005731.2:c.469+12C>A	NP_001005731.1:n.469+12C>A
NM_001321123.1:c.469+12C>A	NP_001308052.1:n.469+12C>A
XM_005257311.4:c.469+12C>A	XP_005257368.1:n.469+12C>A
XM_006721866.3:c.574+12C>A	XP_006721929.1:n.574+12C>A
XM_006721867.3:c.574+12C>A	XP_006721930.1:n.574+12C>A
XM_006721868.3:c.574+12C>A	XP_006721931.1:n.574+12C>A
XM_006721870.3:c.574+12C>A	XP_006721933.1:n.574+12C>A
XM_011524751.2:c.574+12C>A	XP_011523053.1:n.574+12C>A
NM_000213.5:c.469+12C>A MANE Select	NP_000204.3:n.469+12C>A
NM_001005731.3:c.469+12C>A	NP_001005731.1:n.469+12C>A
NM_001321123.2:c.469+12C>A	NP_001308052.1:n.469+12C>A