Canonical Allele Identifier: CA385182994

Gene: ITGA7

Linked Data

• ClinVar Variation Id: 639758
• ClinVar RCV Id: RCV000792652
• dbSNP Id: rs956532606
• MyVariant Identifiers: chr12:g.56088109C>T (hg19) ; chr12:g.55694325C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55694325C>T , CM000674.2:g.55694325C>T	GRCh38
NC_000012.11:g.56088109C>T , CM000674.1:g.56088109C>T	GRCh37
NC_000012.10:g.54374376C>T	NCBI36
NG_012343.1:g.22981G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*1987G>A	ENSP00000452467.1:n.*1987G>A
ENST00000554327.6:c.1034G>A
ENST00000557058.2:n.1778G>A
ENST00000557257.2:c.1889G>A	ENSP00000450578.2:p.Ser630Asn
ENST00000557555.3:c.2375G>A	ENSP00000451039.3:p.Ser792Asn
ENST00000686981.1:c.*2074G>A	ENSP00000510795.1:n.*2074G>A
ENST00000687390.1:n.469G>A
ENST00000689678.1:n.387G>A
ENST00000691052.1:c.*847G>A	ENSP00000508886.1:n.*847G>A
ENST00000691846.1:c.1176G>A
ENST00000691973.1:c.2375G>A	ENSP00000509141.1:p.Ser792Asn
ENST00000257879.11:c.2363G>A MANE Select	ENSP00000257879.7:p.Ser788Asn
ENST00000553804.6:c.2375G>A	ENSP00000452120.1:p.Ser792Asn
ENST00000257879.10:c.2363G>A	ENSP00000257879.6:p.Ser788Asn
ENST00000347027.10:c.2345G>A	ENSP00000343009.6:p.Ser782Asn
ENST00000452168.6:c.2084G>A	ENSP00000393844.2:p.Ser695Asn
ENST00000553804.5:c.2375G>A	ENSP00000452120.1:p.Ser792Asn
ENST00000554327.5:c.428G>A
ENST00000555728.5:c.2495G>A	ENSP00000452387.1:p.Ser832Asn
NM_001144996.1:c.2375G>A	NP_001138468.1:p.Ser792Asn
NM_001144997.1:c.2084G>A	NP_001138469.1:p.Ser695Asn
NM_002206.2:c.2363G>A	NP_002197.2:p.Ser788Asn
XM_005268839.1:c.2495G>A	XP_005268896.1:p.Ser832Asn
XM_005268840.1:c.2477G>A	XP_005268897.1:p.Ser826Asn
XM_005268841.1:c.2495G>A	XP_005268898.1:p.Ser832Asn
XM_005268842.1:c.2345G>A	XP_005268899.1:p.Ser782Asn
XM_005268844.1:c.2156G>A	XP_005268901.1:p.Ser719Asn
XM_005268845.1:c.2024G>A	XP_005268902.1:p.Ser675Asn
XM_005268846.1:c.2024G>A	XP_005268903.1:p.Ser675Asn
XM_005268847.1:c.2021G>A	XP_005268904.1:p.Ser674Asn
XM_005268848.1:c.2021G>A	XP_005268905.1:p.Ser674Asn
XM_005268849.1:c.2021G>A	XP_005268906.1:p.Ser674Asn
XM_005268850.1:c.1889G>A	XP_005268907.1:p.Ser630Asn
XM_011538286.1:c.2156G>A	XP_011536588.1:p.Ser719Asn
XM_005268839.2:c.2495G>A	XP_005268896.1:p.Ser832Asn
XM_005268840.2:c.2477G>A	XP_005268897.1:p.Ser826Asn
XM_005268841.2:c.2495G>A	XP_005268898.1:p.Ser832Asn
XM_005268842.2:c.2345G>A	XP_005268899.1:p.Ser782Asn
XM_017019265.1:c.2105G>A	XP_016874754.1:p.Ser702Asn
NM_001144996.2:c.2375G>A	NP_001138468.1:p.Ser792Asn
NM_001367993.1:c.2036G>A	NP_001354922.1:p.Ser679Asn
NM_001367994.1:c.1019G>A	NP_001354923.1:p.Ser340Asn
NM_001374465.1:c.2345G>A	NP_001361394.1:p.Ser782Asn
NM_002206.3:c.2363G>A MANE Select	NP_002197.2:p.Ser788Asn