Canonical Allele Identifier: CA401038952

Gene: ITGB4

Linked Data

• dbSNP Id: rs1309207880
• gnomAD v2: 17-73723807-G-A
• gnomAD v4: 17-75727726-G-A
• MyVariant Identifiers: chr17:g.73723807G>A (hg19) ; chr17:g.75727726G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75727726G>A , CM000679.2:g.75727726G>A	GRCh38
NC_000017.10:g.73723807G>A , CM000679.1:g.73723807G>A	GRCh37
NC_000017.9:g.71235402G>A	NCBI36
NG_007372.1:g.11292G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449880.7:c.340G>A	ENSP00000400217.2:p.Glu114Lys
ENST00000200181.8:c.340G>A MANE Select	ENSP00000200181.3:p.Glu114Lys
ENST00000200181.7:c.340G>A	ENSP00000200181.3:p.Glu114Lys
ENST00000449880.6:c.340G>A	ENSP00000400217.2:p.Glu114Lys
ENST00000450894.7:c.340G>A	ENSP00000405536.3:p.Glu114Lys
ENST00000579662.5:c.340G>A	ENSP00000463651.1:p.Glu114Lys
ENST00000580542.5:n.405G>A
ENST00000584558.5:n.340G>A
NM_000213.3:c.340G>A	NP_000204.3:p.Glu114Lys
NM_001005619.1:c.340G>A	NP_001005619.1:p.Glu114Lys
NM_001005731.1:c.340G>A	NP_001005731.1:p.Glu114Lys
XM_005257309.2:c.340G>A	XP_005257366.1:p.Glu114Lys
XM_005257311.3:c.340G>A	XP_005257368.1:p.Glu114Lys
XM_005257312.2:c.340G>A	XP_005257369.1:p.Glu114Lys
XM_006721866.2:c.445G>A	XP_006721929.1:p.Glu149Lys
XM_006721867.2:c.445G>A	XP_006721930.1:p.Glu149Lys
XM_006721868.2:c.445G>A	XP_006721931.1:p.Glu149Lys
XM_006721870.2:c.445G>A	XP_006721933.1:p.Glu149Lys
XM_011524751.1:c.445G>A	XP_011523053.1:p.Glu149Lys
NM_000213.4:c.340G>A	NP_000204.3:p.Glu114Lys
NM_001005731.2:c.340G>A	NP_001005731.1:p.Glu114Lys
NM_001321123.1:c.340G>A	NP_001308052.1:p.Glu114Lys
XM_005257311.4:c.340G>A	XP_005257368.1:p.Glu114Lys
XM_006721866.3:c.445G>A	XP_006721929.1:p.Glu149Lys
XM_006721867.3:c.445G>A	XP_006721930.1:p.Glu149Lys
XM_006721868.3:c.445G>A	XP_006721931.1:p.Glu149Lys
XM_006721870.3:c.445G>A	XP_006721933.1:p.Glu149Lys
XM_011524751.2:c.445G>A	XP_011523053.1:p.Glu149Lys
NM_000213.5:c.340G>A MANE Select	NP_000204.3:p.Glu114Lys
NM_001005731.3:c.340G>A	NP_001005731.1:p.Glu114Lys
NM_001321123.2:c.340G>A	NP_001308052.1:p.Glu114Lys