Canonical Allele Identifier: CA385181819

Gene: ITGA7

Linked Data

• MyVariant Identifiers: chr12:g.56087090T>G (hg19) ; chr12:g.55693306T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693306T>G , CM000674.2:g.55693306T>G	GRCh38
NC_000012.11:g.56087090T>G , CM000674.1:g.56087090T>G	GRCh37
NC_000012.10:g.54373357T>G	NCBI36
NG_012343.1:g.24000A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2171A>C	ENSP00000452467.1:n.*2171A>C
ENST00000554327.6:c.1218A>C
ENST00000557058.2:n.1962A>C
ENST00000557257.2:c.2073A>C	ENSP00000450578.2:p.Gln691His
ENST00000557555.3:c.2559A>C	ENSP00000451039.3:p.Gln853His
ENST00000686981.1:c.*2258A>C	ENSP00000510795.1:n.*2258A>C
ENST00000687390.1:n.653A>C
ENST00000691052.1:c.*1031A>C	ENSP00000508886.1:n.*1031A>C
ENST00000691846.1:c.1360A>C
ENST00000691973.1:c.2559A>C	ENSP00000509141.1:p.Gln853His
ENST00000257879.11:c.2547A>C MANE Select	ENSP00000257879.7:p.Gln849His
ENST00000553804.6:c.2559A>C	ENSP00000452120.1:p.Gln853His
ENST00000257879.10:c.2547A>C	ENSP00000257879.6:p.Gln849His
ENST00000347027.10:c.2529A>C	ENSP00000343009.6:p.Gln843His
ENST00000452168.6:c.2268A>C	ENSP00000393844.2:p.Gln756His
ENST00000553804.5:c.2559A>C	ENSP00000452120.1:p.Gln853His
ENST00000554327.5:c.612A>C
ENST00000555728.5:c.2679A>C	ENSP00000452387.1:p.Gln893His
NM_001144996.1:c.2559A>C	NP_001138468.1:p.Gln853His
NM_001144997.1:c.2268A>C	NP_001138469.1:p.Gln756His
NM_002206.2:c.2547A>C	NP_002197.2:p.Gln849His
XM_005268839.1:c.2679A>C	XP_005268896.1:p.Gln893His
XM_005268840.1:c.2661A>C	XP_005268897.1:p.Gln887His
XM_005268841.1:c.2679A>C	XP_005268898.1:p.Gln893His
XM_005268842.1:c.2529A>C	XP_005268899.1:p.Gln843His
XM_005268844.1:c.2340A>C	XP_005268901.1:p.Gln780His
XM_005268845.1:c.2208A>C	XP_005268902.1:p.Gln736His
XM_005268846.1:c.2208A>C	XP_005268903.1:p.Gln736His
XM_005268847.1:c.2205A>C	XP_005268904.1:p.Gln735His
XM_005268848.1:c.2205A>C	XP_005268905.1:p.Gln735His
XM_005268849.1:c.2205A>C	XP_005268906.1:p.Gln735His
XM_005268850.1:c.2073A>C	XP_005268907.1:p.Gln691His
XM_011538286.1:c.2340A>C	XP_011536588.1:p.Gln780His
XM_005268839.2:c.2679A>C	XP_005268896.1:p.Gln893His
XM_005268840.2:c.2661A>C	XP_005268897.1:p.Gln887His
XM_005268841.2:c.2679A>C	XP_005268898.1:p.Gln893His
XM_005268842.2:c.2529A>C	XP_005268899.1:p.Gln843His
XM_017019265.1:c.2289A>C	XP_016874754.1:p.Gln763His
NM_001144996.2:c.2559A>C	NP_001138468.1:p.Gln853His
NM_001367993.1:c.2220A>C	NP_001354922.1:p.Gln740His
NM_001367994.1:c.1203A>C	NP_001354923.1:p.Gln401His
NM_001374465.1:c.2529A>C	NP_001361394.1:p.Gln843His
NM_002206.3:c.2547A>C MANE Select	NP_002197.2:p.Gln849His