Canonical Allele Identifier: CA6615340

Gene: ITGA7

Linked Data

• ClinVar Variation Id: 423926
• ClinVar RCV Id: RCV000482808 ; RCV000692087 ; RCV004023207
• dbSNP Id: rs764565180
• ExAC: 12:56081820 C / A
• gnomAD v2: 12-56081820-C-A
• gnomAD v3: 12-55688036-C-A
• gnomAD v4: 12-55688036-C-A
• MyVariant Identifiers: chr12:g.56081820C>A (hg19) ; chr12:g.55688036C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55688036C>A , CM000674.2:g.55688036C>A	GRCh38
NC_000012.11:g.56081820C>A , CM000674.1:g.56081820C>A	GRCh37
NC_000012.10:g.54368087C>A	NCBI36
NG_012343.1:g.29270G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553893.6:c.*2742G>T	ENSP00000452467.1:n.*2742G>T
ENST00000554327.6:c.1789G>T
ENST00000557058.2:n.2533G>T
ENST00000557257.2:c.2644G>T	ENSP00000450578.2:p.Val882Phe
ENST00000557555.3:c.3130G>T	ENSP00000451039.3:p.Val1044Phe
ENST00000686981.1:c.*2829G>T	ENSP00000510795.1:n.*2829G>T
ENST00000687390.1:n.1224G>T
ENST00000688413.1:n.2232G>T
ENST00000691052.1:c.*1602G>T	ENSP00000508886.1:n.*1602G>T
ENST00000691846.1:c.1931G>T
ENST00000691973.1:c.3058G>T	ENSP00000509141.1:p.Val1020Phe
ENST00000257879.11:c.3118G>T MANE Select	ENSP00000257879.7:p.Val1040Phe
ENST00000553804.6:c.3130G>T	ENSP00000452120.1:p.Val1044Phe
ENST00000557555.2:c.208G>T	ENSP00000451039.2:p.Val70Phe
ENST00000257879.10:c.3118G>T	ENSP00000257879.6:p.Val1040Phe
ENST00000347027.10:c.3100G>T	ENSP00000343009.6:p.Val1034Phe
ENST00000452168.6:c.2839G>T	ENSP00000393844.2:p.Val947Phe
ENST00000553804.5:c.3130G>T	ENSP00000452120.1:p.Val1044Phe
ENST00000554327.5:c.1183G>T
ENST00000555728.5:c.3250G>T	ENSP00000452387.1:p.Val1084Phe
ENST00000557555.1:c.208G>T
NM_001144996.1:c.3130G>T	NP_001138468.1:p.Val1044Phe
NM_001144997.1:c.2839G>T	NP_001138469.1:p.Val947Phe
NM_002206.2:c.3118G>T	NP_002197.2:p.Val1040Phe
XM_005268839.1:c.3250G>T	XP_005268896.1:p.Val1084Phe
XM_005268840.1:c.3232G>T	XP_005268897.1:p.Val1078Phe
XM_005268841.1:c.3250G>T	XP_005268898.1:p.Val1084Phe
XM_005268842.1:c.3100G>T	XP_005268899.1:p.Val1034Phe
XM_005268844.1:c.2911G>T	XP_005268901.1:p.Val971Phe
XM_005268845.1:c.2779G>T	XP_005268902.1:p.Val927Phe
XM_005268846.1:c.2779G>T	XP_005268903.1:p.Val927Phe
XM_005268847.1:c.2776G>T	XP_005268904.1:p.Val926Phe
XM_005268848.1:c.2776G>T	XP_005268905.1:p.Val926Phe
XM_005268849.1:c.2776G>T	XP_005268906.1:p.Val926Phe
XM_005268850.1:c.2644G>T	XP_005268907.1:p.Val882Phe
XM_011538286.1:c.2911G>T	XP_011536588.1:p.Val971Phe
XM_005268839.2:c.3250G>T	XP_005268896.1:p.Val1084Phe
XM_005268840.2:c.3232G>T	XP_005268897.1:p.Val1078Phe
XM_005268841.2:c.3250G>T	XP_005268898.1:p.Val1084Phe
XM_005268842.2:c.3100G>T	XP_005268899.1:p.Val1034Phe
XM_017019265.1:c.2860G>T	XP_016874754.1:p.Val954Phe
NM_001144996.2:c.3130G>T	NP_001138468.1:p.Val1044Phe
NM_001367993.1:c.2791G>T	NP_001354922.1:p.Val931Phe
NM_001367994.1:c.1774G>T	NP_001354923.1:p.Val592Phe
NM_001374465.1:c.3100G>T	NP_001361394.1:p.Val1034Phe
NM_002206.3:c.3118G>T MANE Select	NP_002197.2:p.Val1040Phe