Canonical Allele Identifier: CA480145609

Gene: ITGA7

Linked Data

• gnomAD v4: 12-55693291-T-C
• MyVariant Identifiers: chr12:g.56087075T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693291T>C , CM000674.2:g.55693291T>C	GRCh38
NC_000012.11:g.56087075T>C , CM000674.1:g.56087075T>C	GRCh37
NC_000012.10:g.54373342T>C	NCBI36
NG_012343.1:g.24015A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2186A>G	ENSP00000452467.1:n.*2186A>G
ENST00000554327.6:c.1233A>G
ENST00000557058.2:n.1977A>G
ENST00000557257.2:c.2088A>G	ENSP00000450578.2:p.Arg696=
ENST00000557555.3:c.2574A>G	ENSP00000451039.3:p.Arg858=
ENST00000686981.1:c.*2273A>G	ENSP00000510795.1:n.*2273A>G
ENST00000687390.1:n.668A>G
ENST00000691052.1:c.*1046A>G	ENSP00000508886.1:n.*1046A>G
ENST00000691846.1:c.1375A>G
ENST00000691973.1:c.2574A>G	ENSP00000509141.1:p.Arg858=
ENST00000257879.11:c.2562A>G MANE Select	ENSP00000257879.7:p.Arg854=
ENST00000553804.6:c.2574A>G	ENSP00000452120.1:p.Arg858=
ENST00000257879.10:c.2562A>G	ENSP00000257879.6:p.Arg854=
ENST00000347027.10:c.2544A>G	ENSP00000343009.6:p.Arg848=
ENST00000452168.6:c.2283A>G	ENSP00000393844.2:p.Arg761=
ENST00000553804.5:c.2574A>G	ENSP00000452120.1:p.Arg858=
ENST00000554327.5:c.627A>G
ENST00000555728.5:c.2694A>G	ENSP00000452387.1:p.Arg898=
NM_001144996.1:c.2574A>G	NP_001138468.1:p.Arg858=
NM_001144997.1:c.2283A>G	NP_001138469.1:p.Arg761=
NM_002206.2:c.2562A>G	NP_002197.2:p.Arg854=
XM_005268839.1:c.2694A>G	XP_005268896.1:p.Arg898=
XM_005268840.1:c.2676A>G	XP_005268897.1:p.Arg892=
XM_005268841.1:c.2694A>G	XP_005268898.1:p.Arg898=
XM_005268842.1:c.2544A>G	XP_005268899.1:p.Arg848=
XM_005268844.1:c.2355A>G	XP_005268901.1:p.Arg785=
XM_005268845.1:c.2223A>G	XP_005268902.1:p.Arg741=
XM_005268846.1:c.2223A>G	XP_005268903.1:p.Arg741=
XM_005268847.1:c.2220A>G	XP_005268904.1:p.Arg740=
XM_005268848.1:c.2220A>G	XP_005268905.1:p.Arg740=
XM_005268849.1:c.2220A>G	XP_005268906.1:p.Arg740=
XM_005268850.1:c.2088A>G	XP_005268907.1:p.Arg696=
XM_011538286.1:c.2355A>G	XP_011536588.1:p.Arg785=
XM_005268839.2:c.2694A>G	XP_005268896.1:p.Arg898=
XM_005268840.2:c.2676A>G	XP_005268897.1:p.Arg892=
XM_005268841.2:c.2694A>G	XP_005268898.1:p.Arg898=
XM_005268842.2:c.2544A>G	XP_005268899.1:p.Arg848=
XM_017019265.1:c.2304A>G	XP_016874754.1:p.Arg768=
NM_001144996.2:c.2574A>G	NP_001138468.1:p.Arg858=
NM_001367993.1:c.2235A>G	NP_001354922.1:p.Arg745=
NM_001367994.1:c.1218A>G	NP_001354923.1:p.Arg406=
NM_001374465.1:c.2544A>G	NP_001361394.1:p.Arg848=
NM_002206.3:c.2562A>G MANE Select	NP_002197.2:p.Arg854=