Canonical Allele Identifier: CA6615532

Gene: ITGA7

Linked Data

• ClinVar Variation Id: 1411891
• ClinVar RCV Id: RCV001922975
• dbSNP Id: rs764412210
• ExAC: 12:56087082 G / A
• gnomAD v2: 12-56087082-G-A
• gnomAD v3: 12-55693298-G-A
• gnomAD v4: 12-55693298-G-A
• COSMIC: COSM3719517 ; COSM3719518 ; COSM3719519
• MyVariant Identifiers: chr12:g.56087082G>A (hg19) ; chr12:g.55693298G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693298G>A , CM000674.2:g.55693298G>A	GRCh38
NC_000012.11:g.56087082G>A , CM000674.1:g.56087082G>A	GRCh37
NC_000012.10:g.54373349G>A	NCBI36
NG_012343.1:g.24008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2179C>T	ENSP00000452467.1:n.*2179C>T
ENST00000554327.6:c.1226C>T
ENST00000557058.2:n.1970C>T
ENST00000557257.2:c.2081C>T	ENSP00000450578.2:p.Ser694Leu
ENST00000557555.3:c.2567C>T	ENSP00000451039.3:p.Ser856Leu
ENST00000686981.1:c.*2266C>T	ENSP00000510795.1:n.*2266C>T
ENST00000687390.1:n.661C>T
ENST00000691052.1:c.*1039C>T	ENSP00000508886.1:n.*1039C>T
ENST00000691846.1:c.1368C>T
ENST00000691973.1:c.2567C>T	ENSP00000509141.1:p.Ser856Leu
ENST00000257879.11:c.2555C>T MANE Select	ENSP00000257879.7:p.Ser852Leu
ENST00000553804.6:c.2567C>T	ENSP00000452120.1:p.Ser856Leu
ENST00000257879.10:c.2555C>T	ENSP00000257879.6:p.Ser852Leu
ENST00000347027.10:c.2537C>T	ENSP00000343009.6:p.Ser846Leu
ENST00000452168.6:c.2276C>T	ENSP00000393844.2:p.Ser759Leu
ENST00000553804.5:c.2567C>T	ENSP00000452120.1:p.Ser856Leu
ENST00000554327.5:c.620C>T
ENST00000555728.5:c.2687C>T	ENSP00000452387.1:p.Ser896Leu
NM_001144996.1:c.2567C>T	NP_001138468.1:p.Ser856Leu
NM_001144997.1:c.2276C>T	NP_001138469.1:p.Ser759Leu
NM_002206.2:c.2555C>T	NP_002197.2:p.Ser852Leu
XM_005268839.1:c.2687C>T	XP_005268896.1:p.Ser896Leu
XM_005268840.1:c.2669C>T	XP_005268897.1:p.Ser890Leu
XM_005268841.1:c.2687C>T	XP_005268898.1:p.Ser896Leu
XM_005268842.1:c.2537C>T	XP_005268899.1:p.Ser846Leu
XM_005268844.1:c.2348C>T	XP_005268901.1:p.Ser783Leu
XM_005268845.1:c.2216C>T	XP_005268902.1:p.Ser739Leu
XM_005268846.1:c.2216C>T	XP_005268903.1:p.Ser739Leu
XM_005268847.1:c.2213C>T	XP_005268904.1:p.Ser738Leu
XM_005268848.1:c.2213C>T	XP_005268905.1:p.Ser738Leu
XM_005268849.1:c.2213C>T	XP_005268906.1:p.Ser738Leu
XM_005268850.1:c.2081C>T	XP_005268907.1:p.Ser694Leu
XM_011538286.1:c.2348C>T	XP_011536588.1:p.Ser783Leu
XM_005268839.2:c.2687C>T	XP_005268896.1:p.Ser896Leu
XM_005268840.2:c.2669C>T	XP_005268897.1:p.Ser890Leu
XM_005268841.2:c.2687C>T	XP_005268898.1:p.Ser896Leu
XM_005268842.2:c.2537C>T	XP_005268899.1:p.Ser846Leu
XM_017019265.1:c.2297C>T	XP_016874754.1:p.Ser766Leu
NM_001144996.2:c.2567C>T	NP_001138468.1:p.Ser856Leu
NM_001367993.1:c.2228C>T	NP_001354922.1:p.Ser743Leu
NM_001367994.1:c.1211C>T	NP_001354923.1:p.Ser404Leu
NM_001374465.1:c.2537C>T	NP_001361394.1:p.Ser846Leu
NM_002206.3:c.2555C>T MANE Select	NP_002197.2:p.Ser852Leu