Canonical Allele Identifier: CA385181745

Gene: ITGA7

Linked Data

• dbSNP Id: rs1475190884
• gnomAD v2: 12-56087053-T-G
• gnomAD v4: 12-55693269-T-G
• MyVariant Identifiers: chr12:g.56087053T>G (hg19) ; chr12:g.55693269T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55693269T>G , CM000674.2:g.55693269T>G	GRCh38
NC_000012.11:g.56087053T>G , CM000674.1:g.56087053T>G	GRCh37
NC_000012.10:g.54373320T>G	NCBI36
NG_012343.1:g.24037A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2208A>C	ENSP00000452467.1:n.*2208A>C
ENST00000554327.6:c.1255A>C
ENST00000557058.2:n.1999A>C
ENST00000557257.2:c.2110A>C	ENSP00000450578.2:p.Asn704His
ENST00000557555.3:c.2596A>C	ENSP00000451039.3:p.Asn866His
ENST00000686981.1:c.*2295A>C	ENSP00000510795.1:n.*2295A>C
ENST00000687390.1:n.690A>C
ENST00000691052.1:c.*1068A>C	ENSP00000508886.1:n.*1068A>C
ENST00000691846.1:c.1397A>C
ENST00000691973.1:c.2596A>C	ENSP00000509141.1:p.Asn866His
ENST00000257879.11:c.2584A>C MANE Select	ENSP00000257879.7:p.Asn862His
ENST00000553804.6:c.2596A>C	ENSP00000452120.1:p.Asn866His
ENST00000257879.10:c.2584A>C	ENSP00000257879.6:p.Asn862His
ENST00000347027.10:c.2566A>C	ENSP00000343009.6:p.Asn856His
ENST00000452168.6:c.2305A>C	ENSP00000393844.2:p.Asn769His
ENST00000553804.5:c.2596A>C	ENSP00000452120.1:p.Asn866His
ENST00000554327.5:c.649A>C
ENST00000555728.5:c.2716A>C	ENSP00000452387.1:p.Asn906His
NM_001144996.1:c.2596A>C	NP_001138468.1:p.Asn866His
NM_001144997.1:c.2305A>C	NP_001138469.1:p.Asn769His
NM_002206.2:c.2584A>C	NP_002197.2:p.Asn862His
XM_005268839.1:c.2716A>C	XP_005268896.1:p.Asn906His
XM_005268840.1:c.2698A>C	XP_005268897.1:p.Asn900His
XM_005268841.1:c.2716A>C	XP_005268898.1:p.Asn906His
XM_005268842.1:c.2566A>C	XP_005268899.1:p.Asn856His
XM_005268844.1:c.2377A>C	XP_005268901.1:p.Asn793His
XM_005268845.1:c.2245A>C	XP_005268902.1:p.Asn749His
XM_005268846.1:c.2245A>C	XP_005268903.1:p.Asn749His
XM_005268847.1:c.2242A>C	XP_005268904.1:p.Asn748His
XM_005268848.1:c.2242A>C	XP_005268905.1:p.Asn748His
XM_005268849.1:c.2242A>C	XP_005268906.1:p.Asn748His
XM_005268850.1:c.2110A>C	XP_005268907.1:p.Asn704His
XM_011538286.1:c.2377A>C	XP_011536588.1:p.Asn793His
XM_005268839.2:c.2716A>C	XP_005268896.1:p.Asn906His
XM_005268840.2:c.2698A>C	XP_005268897.1:p.Asn900His
XM_005268841.2:c.2716A>C	XP_005268898.1:p.Asn906His
XM_005268842.2:c.2566A>C	XP_005268899.1:p.Asn856His
XM_017019265.1:c.2326A>C	XP_016874754.1:p.Asn776His
NM_001144996.2:c.2596A>C	NP_001138468.1:p.Asn866His
NM_001367993.1:c.2257A>C	NP_001354922.1:p.Asn753His
NM_001367994.1:c.1240A>C	NP_001354923.1:p.Asn414His
NM_001374465.1:c.2566A>C	NP_001361394.1:p.Asn856His
NM_002206.3:c.2584A>C MANE Select	NP_002197.2:p.Asn862His