Canonical Allele Identifier: CA501832222

Gene: ITGB4

Linked Data

• dbSNP Id: rs2060755686
• gnomAD v3: 17-75727824-G-A
• gnomAD v4: 17-75727824-G-A
• MyVariant Identifiers: chr17:g.73723905G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75727824G>A , CM000679.2:g.75727824G>A	GRCh38
NC_000017.10:g.73723905G>A , CM000679.1:g.73723905G>A	GRCh37
NC_000017.9:g.71235500G>A	NCBI36
NG_007372.1:g.11390G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449880.7:c.438G>A	ENSP00000400217.2:p.Leu146=
ENST00000200181.8:c.438G>A MANE Select	ENSP00000200181.3:p.Leu146=
ENST00000200181.7:c.438G>A	ENSP00000200181.3:p.Leu146=
ENST00000449880.6:c.438G>A	ENSP00000400217.2:p.Leu146=
ENST00000450894.7:c.438G>A	ENSP00000405536.3:p.Leu146=
ENST00000579662.5:c.438G>A	ENSP00000463651.1:p.Leu146=
ENST00000580542.5:n.503G>A
ENST00000582629.1:c.24G>A	ENSP00000463788.1:p.Leu8=
ENST00000584558.5:n.438G>A
NM_000213.3:c.438G>A	NP_000204.3:p.Leu146=
NM_001005619.1:c.438G>A	NP_001005619.1:p.Leu146=
NM_001005731.1:c.438G>A	NP_001005731.1:p.Leu146=
XM_005257309.2:c.438G>A	XP_005257366.1:p.Leu146=
XM_005257311.3:c.438G>A	XP_005257368.1:p.Leu146=
XM_005257312.2:c.438G>A	XP_005257369.1:p.Leu146=
XM_006721866.2:c.543G>A	XP_006721929.1:p.Leu181=
XM_006721867.2:c.543G>A	XP_006721930.1:p.Leu181=
XM_006721868.2:c.543G>A	XP_006721931.1:p.Leu181=
XM_006721870.2:c.543G>A	XP_006721933.1:p.Leu181=
XM_011524751.1:c.543G>A	XP_011523053.1:p.Leu181=
NM_000213.4:c.438G>A	NP_000204.3:p.Leu146=
NM_001005731.2:c.438G>A	NP_001005731.1:p.Leu146=
NM_001321123.1:c.438G>A	NP_001308052.1:p.Leu146=
XM_005257311.4:c.438G>A	XP_005257368.1:p.Leu146=
XM_006721866.3:c.543G>A	XP_006721929.1:p.Leu181=
XM_006721867.3:c.543G>A	XP_006721930.1:p.Leu181=
XM_006721868.3:c.543G>A	XP_006721931.1:p.Leu181=
XM_006721870.3:c.543G>A	XP_006721933.1:p.Leu181=
XM_011524751.2:c.543G>A	XP_011523053.1:p.Leu181=
NM_000213.5:c.438G>A MANE Select	NP_000204.3:p.Leu146=
NM_001005731.3:c.438G>A	NP_001005731.1:p.Leu146=
NM_001321123.2:c.438G>A	NP_001308052.1:p.Leu146=