Canonical Allele Identifier: CA385181741

Gene: ITGA7

Linked Data

• ClinVar Variation Id: 1524374
• ClinVar RCV Id: RCV002031672
• dbSNP Id: rs2135990456
• MyVariant Identifiers: chr12:g.56087052T>C (hg19) ; chr12:g.55693268T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693268T>C , CM000674.2:g.55693268T>C	GRCh38
NC_000012.11:g.56087052T>C , CM000674.1:g.56087052T>C	GRCh37
NC_000012.10:g.54373319T>C	NCBI36
NG_012343.1:g.24038A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2209A>G	ENSP00000452467.1:n.*2209A>G
ENST00000554327.6:c.1256A>G
ENST00000557058.2:n.2000A>G
ENST00000557257.2:c.2111A>G	ENSP00000450578.2:p.Asn704Ser
ENST00000557555.3:c.2597A>G	ENSP00000451039.3:p.Asn866Ser
ENST00000686981.1:c.*2296A>G	ENSP00000510795.1:n.*2296A>G
ENST00000687390.1:n.691A>G
ENST00000691052.1:c.*1069A>G	ENSP00000508886.1:n.*1069A>G
ENST00000691846.1:c.1398A>G
ENST00000691973.1:c.2597A>G	ENSP00000509141.1:p.Asn866Ser
ENST00000257879.11:c.2585A>G MANE Select	ENSP00000257879.7:p.Asn862Ser
ENST00000553804.6:c.2597A>G	ENSP00000452120.1:p.Asn866Ser
ENST00000257879.10:c.2585A>G	ENSP00000257879.6:p.Asn862Ser
ENST00000347027.10:c.2567A>G	ENSP00000343009.6:p.Asn856Ser
ENST00000452168.6:c.2306A>G	ENSP00000393844.2:p.Asn769Ser
ENST00000553804.5:c.2597A>G	ENSP00000452120.1:p.Asn866Ser
ENST00000554327.5:c.650A>G
ENST00000555728.5:c.2717A>G	ENSP00000452387.1:p.Asn906Ser
NM_001144996.1:c.2597A>G	NP_001138468.1:p.Asn866Ser
NM_001144997.1:c.2306A>G	NP_001138469.1:p.Asn769Ser
NM_002206.2:c.2585A>G	NP_002197.2:p.Asn862Ser
XM_005268839.1:c.2717A>G	XP_005268896.1:p.Asn906Ser
XM_005268840.1:c.2699A>G	XP_005268897.1:p.Asn900Ser
XM_005268841.1:c.2717A>G	XP_005268898.1:p.Asn906Ser
XM_005268842.1:c.2567A>G	XP_005268899.1:p.Asn856Ser
XM_005268844.1:c.2378A>G	XP_005268901.1:p.Asn793Ser
XM_005268845.1:c.2246A>G	XP_005268902.1:p.Asn749Ser
XM_005268846.1:c.2246A>G	XP_005268903.1:p.Asn749Ser
XM_005268847.1:c.2243A>G	XP_005268904.1:p.Asn748Ser
XM_005268848.1:c.2243A>G	XP_005268905.1:p.Asn748Ser
XM_005268849.1:c.2243A>G	XP_005268906.1:p.Asn748Ser
XM_005268850.1:c.2111A>G	XP_005268907.1:p.Asn704Ser
XM_011538286.1:c.2378A>G	XP_011536588.1:p.Asn793Ser
XM_005268839.2:c.2717A>G	XP_005268896.1:p.Asn906Ser
XM_005268840.2:c.2699A>G	XP_005268897.1:p.Asn900Ser
XM_005268841.2:c.2717A>G	XP_005268898.1:p.Asn906Ser
XM_005268842.2:c.2567A>G	XP_005268899.1:p.Asn856Ser
XM_017019265.1:c.2327A>G	XP_016874754.1:p.Asn776Ser
NM_001144996.2:c.2597A>G	NP_001138468.1:p.Asn866Ser
NM_001367993.1:c.2258A>G	NP_001354922.1:p.Asn753Ser
NM_001367994.1:c.1241A>G	NP_001354923.1:p.Asn414Ser
NM_001374465.1:c.2567A>G	NP_001361394.1:p.Asn856Ser
NM_002206.3:c.2585A>G MANE Select	NP_002197.2:p.Asn862Ser