Canonical Allele Identifier: CA147554

Gene: ITGA7

Linked Data

• ClinVar Variation Id: 94035
• ClinVar RCV Id: RCV001519189
• dbSNP Id: rs1800974
• ExAC: 12:56089357 C / T
• gnomAD v2: 12-56089357-C-T
• gnomAD v3: 12-55695573-C-T
• gnomAD v4: 12-55695573-C-T
• MyVariant Identifiers: chr12:g.56089357C>T (hg19) ; chr12:g.55695573C>T (hg38)
• PubMed: PMID:16741161

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55695573C>T , CM000674.2:g.55695573C>T	GRCh38
NC_000012.11:g.56089357C>T , CM000674.1:g.56089357C>T	GRCh37
NC_000012.10:g.54375624C>T	NCBI36
NG_012343.1:g.21733G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553893.6:c.*1576G>A	ENSP00000452467.1:n.*1576G>A
ENST00000554327.6:c.816G>A
ENST00000557058.2:n.816G>A
ENST00000557257.2:c.1478G>A	ENSP00000450578.2:p.Arg493His
ENST00000557555.3:c.1964G>A	ENSP00000451039.3:p.Arg655His
ENST00000686981.1:c.*1663G>A	ENSP00000510795.1:n.*1663G>A
ENST00000691052.1:c.*436G>A	ENSP00000508886.1:n.*436G>A
ENST00000691846.1:c.797G>A
ENST00000691973.1:c.1964G>A	ENSP00000509141.1:p.Arg655His
ENST00000257879.11:c.1952G>A MANE Select	ENSP00000257879.7:p.Arg651His
ENST00000553804.6:c.1964G>A	ENSP00000452120.1:p.Arg655His
ENST00000257879.10:c.1952G>A	ENSP00000257879.6:p.Arg651His
ENST00000347027.10:c.1934G>A	ENSP00000343009.6:p.Arg645His
ENST00000452168.6:c.1673G>A	ENSP00000393844.2:p.Arg558His
ENST00000553804.5:c.1964G>A	ENSP00000452120.1:p.Arg655His
ENST00000554327.5:c.210G>A
ENST00000555728.5:c.2084G>A	ENSP00000452387.1:p.Arg695His
ENST00000557058.1:n.199G>A
NM_001144996.1:c.1964G>A	NP_001138468.1:p.Arg655His
NM_001144997.1:c.1673G>A	NP_001138469.1:p.Arg558His
NM_002206.2:c.1952G>A	NP_002197.2:p.Arg651His
XM_005268839.1:c.2084G>A	XP_005268896.1:p.Arg695His
XM_005268840.1:c.2066G>A	XP_005268897.1:p.Arg689His
XM_005268841.1:c.2084G>A	XP_005268898.1:p.Arg695His
XM_005268842.1:c.1934G>A	XP_005268899.1:p.Arg645His
XM_005268844.1:c.1745G>A	XP_005268901.1:p.Arg582His
XM_005268845.1:c.1613G>A	XP_005268902.1:p.Arg538His
XM_005268846.1:c.1613G>A	XP_005268903.1:p.Arg538His
XM_005268847.1:c.1610G>A	XP_005268904.1:p.Arg537His
XM_005268848.1:c.1610G>A	XP_005268905.1:p.Arg537His
XM_005268849.1:c.1610G>A	XP_005268906.1:p.Arg537His
XM_005268850.1:c.1478G>A	XP_005268907.1:p.Arg493His
XM_011538286.1:c.1745G>A	XP_011536588.1:p.Arg582His
XM_011538287.1:c.2084G>A	XP_011536589.1:p.Arg695His
XM_005268839.2:c.2084G>A	XP_005268896.1:p.Arg695His
XM_005268840.2:c.2066G>A	XP_005268897.1:p.Arg689His
XM_005268841.2:c.2084G>A	XP_005268898.1:p.Arg695His
XM_005268842.2:c.1934G>A	XP_005268899.1:p.Arg645His
XM_017019265.1:c.1694G>A	XP_016874754.1:p.Arg565His
NM_001144996.2:c.1964G>A	NP_001138468.1:p.Arg655His
NM_001367993.1:c.1625G>A	NP_001354922.1:p.Arg542His
NM_001367994.1:c.608G>A	NP_001354923.1:p.Arg203His
NM_001374465.1:c.1934G>A	NP_001361394.1:p.Arg645His
NM_002206.3:c.1952G>A MANE Select	NP_002197.2:p.Arg651His