Canonical Allele Identifier: CA385181707

Gene: ITGA7

Linked Data

• dbSNP Id: rs1218414091
• gnomAD v3: 12-55693254-G-A
• gnomAD v4: 12-55693254-G-A
• MyVariant Identifiers: chr12:g.56087038G>A (hg19) ; chr12:g.55693254G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693254G>A , CM000674.2:g.55693254G>A	GRCh38
NC_000012.11:g.56087038G>A , CM000674.1:g.56087038G>A	GRCh37
NC_000012.10:g.54373305G>A	NCBI36
NG_012343.1:g.24052C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2223C>T	ENSP00000452467.1:n.*2223C>T
ENST00000554327.6:c.1270C>T
ENST00000557058.2:n.2014C>T
ENST00000557257.2:c.2125C>T	ENSP00000450578.2:p.His709Tyr
ENST00000557555.3:c.2611C>T	ENSP00000451039.3:p.His871Tyr
ENST00000686981.1:c.*2310C>T	ENSP00000510795.1:n.*2310C>T
ENST00000687390.1:n.705C>T
ENST00000691052.1:c.*1083C>T	ENSP00000508886.1:n.*1083C>T
ENST00000691846.1:c.1412C>T
ENST00000691973.1:c.2611C>T	ENSP00000509141.1:p.His871Tyr
ENST00000257879.11:c.2599C>T MANE Select	ENSP00000257879.7:p.His867Tyr
ENST00000553804.6:c.2611C>T	ENSP00000452120.1:p.His871Tyr
ENST00000257879.10:c.2599C>T	ENSP00000257879.6:p.His867Tyr
ENST00000347027.10:c.2581C>T	ENSP00000343009.6:p.His861Tyr
ENST00000452168.6:c.2320C>T	ENSP00000393844.2:p.His774Tyr
ENST00000553804.5:c.2611C>T	ENSP00000452120.1:p.His871Tyr
ENST00000554327.5:c.664C>T
ENST00000555728.5:c.2731C>T	ENSP00000452387.1:p.His911Tyr
NM_001144996.1:c.2611C>T	NP_001138468.1:p.His871Tyr
NM_001144997.1:c.2320C>T	NP_001138469.1:p.His774Tyr
NM_002206.2:c.2599C>T	NP_002197.2:p.His867Tyr
XM_005268839.1:c.2731C>T	XP_005268896.1:p.His911Tyr
XM_005268840.1:c.2713C>T	XP_005268897.1:p.His905Tyr
XM_005268841.1:c.2731C>T	XP_005268898.1:p.His911Tyr
XM_005268842.1:c.2581C>T	XP_005268899.1:p.His861Tyr
XM_005268844.1:c.2392C>T	XP_005268901.1:p.His798Tyr
XM_005268845.1:c.2260C>T	XP_005268902.1:p.His754Tyr
XM_005268846.1:c.2260C>T	XP_005268903.1:p.His754Tyr
XM_005268847.1:c.2257C>T	XP_005268904.1:p.His753Tyr
XM_005268848.1:c.2257C>T	XP_005268905.1:p.His753Tyr
XM_005268849.1:c.2257C>T	XP_005268906.1:p.His753Tyr
XM_005268850.1:c.2125C>T	XP_005268907.1:p.His709Tyr
XM_011538286.1:c.2392C>T	XP_011536588.1:p.His798Tyr
XM_005268839.2:c.2731C>T	XP_005268896.1:p.His911Tyr
XM_005268840.2:c.2713C>T	XP_005268897.1:p.His905Tyr
XM_005268841.2:c.2731C>T	XP_005268898.1:p.His911Tyr
XM_005268842.2:c.2581C>T	XP_005268899.1:p.His861Tyr
XM_017019265.1:c.2341C>T	XP_016874754.1:p.His781Tyr
NM_001144996.2:c.2611C>T	NP_001138468.1:p.His871Tyr
NM_001367993.1:c.2272C>T	NP_001354922.1:p.His758Tyr
NM_001367994.1:c.1255C>T	NP_001354923.1:p.His419Tyr
NM_001374465.1:c.2581C>T	NP_001361394.1:p.His861Tyr
NM_002206.3:c.2599C>T MANE Select	NP_002197.2:p.His867Tyr